All transcript variants in gene PAK3

Information The variants shown are described using the NM_002578.3 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-27-25_-27-24insT r.(=) p.(=) g.110366280_110366281insT Copied from the Exome Variant Server PAK3_000001 29/10198 18/6481 11/3717
?/? c.-27-19T>C r.(=) p.(=) g.110366286T>C Copied from the Exome Variant Server PAK3_000002 1/10562 1/6727 0/3835
?/? c.10G>A r.(?) p.(Gly4Ser) g.110366341G>A Copied from the Exome Variant Server PAK3_000003 1/10563 1/6728 0/3835
?/? c.36G>A r.(=) p.(=) g.110366367G>A Copied from the Exome Variant Server PAK3_000004 4/10563 0/6728 4/3835
?/? c.80C>G r.(?) p.(Ala27Gly) g.110366411C>G Copied from the Exome Variant Server PAK3_000005 1/10563 0/6728 1/3835
?/? c.101C>T r.(?) p.(Pro34Leu) g.110366432C>T Copied from the Exome Variant Server PAK3_000006 1/10563 1/6728 0/3835
?/? c.161G>T r.(?) p.(Gly54Val) g.110366492G>T Copied from the Exome Variant Server PAK3_000007 1/10563 1/6728 0/3835
?/? c.175+34C>A r.(=) p.(=) g.110366540C>A Copied from the Exome Variant Server PAK3_000008 4/10562 0/6728 4/3834
?/? c.176-40C>T r.(=) p.(=) g.110385284C>T Copied from the Exome Variant Server PAK3_000009 1/10563 0/6728 1/3835
?/? c.176-21A>G r.(=) p.(=) g.110385303A>G Copied from the Exome Variant Server PAK3_000010 1/10563 1/6728 0/3835
?/? c.255T>C r.(=) p.(=) g.110385403T>C Copied from the Exome Variant Server PAK3_000011 1/10563 1/6728 0/3835
?/? c.276+23T>G r.(=) p.(=) g.110385447T>G Copied from the Exome Variant Server PAK3_000012 3/10563 3/6728 0/3835
?/? c.276+35G>A r.(=) p.(=) g.110385459G>A Copied from the Exome Variant Server PAK3_000013 1/10562 1/6727 0/3835
?/? c.276+2659T>C r.(=) p.(=) g.110388083T>C Copied from the Exome Variant Server PAK3_000014 58/8119 52/5492 6/2627
?/? c.276+2770C>T r.(=) p.(=) g.110388194C>T Copied from the Exome Variant Server PAK3_000015 3/7886 0/5332 3/2554
?/? c.277-1157C>T r.(=) p.(=) g.110389808C>T Copied from the Exome Variant Server PAK3_000016 1/8108 1/5482 0/2626
?/? c.277-24T>G r.(=) p.(=) g.110390941T>G Copied from the Exome Variant Server PAK3_000017 1/10563 0/6728 1/3835
?/? c.328T>C r.(=) p.(=) g.110391016T>C Copied from the Exome Variant Server PAK3_000018 13/10563 1/6728 12/3835
?/? c.364G>A r.(?) p.(Val122Ile) g.110391052G>A Copied from the Exome Variant Server PAK3_000019 1/10563 1/6728 0/3835
?/? c.426A>C r.(=) p.(=) g.110391114A>C Copied from the Exome Variant Server PAK3_000020 2/10563 0/6728 2/3835
?/? c.431-59G>A r.(=) p.(=) g.110395579G>A Copied from the Exome Variant Server PAK3_000021 231/3598 0/2389 231/1209
?/? c.431-26A>G r.(=) p.(=) g.110395612A>G Copied from the Exome Variant Server PAK3_000023 1989/10562 140/6727 1849/3835
?/? c.467C>T r.(?) p.(Ser156Leu) g.110395674C>T Copied from the Exome Variant Server PAK3_000025 1/10561 0/6726 1/3835
?/? c.468G>A r.(=) p.(=) g.110395675G>A Copied from the Exome Variant Server PAK3_000027 2/10561 2/6726 0/3835
?/? c.468+43C>T r.(=) p.(=) g.110395718C>T Copied from the Exome Variant Server PAK3_000029 1/10562 0/6727 1/3835
?/? c.483A>G r.(=) p.(=) g.110406157A>G Copied from the Exome Variant Server PAK3_000022 11/10562 0/6727 11/3835
?/? c.496T>C r.(=) p.(=) g.110406170T>C Copied from the Exome Variant Server PAK3_000024 1/10562 0/6727 1/3835
?/? c.523_525del r.(?) p.(Asp175del) g.110406197_110406199del Copied from the Exome Variant Server PAK3_000026 165/10205 100/6484 65/3721
?/? c.524A>G r.(?) p.(Asp175Gly) g.110406198A>G Copied from the Exome Variant Server PAK3_000028 1/10562 1/6727 0/3835
?/? c.531G>A r.(=) p.(=) g.110406205G>A Copied from the Exome Variant Server PAK3_000030 23/10563 22/6728 1/3835
?/? c.531_532insGAA r.(?) p.(Glu182dup) g.110406205_110406206insGAA Copied from the Exome Variant Server PAK3_000031 6/10205 6/6484 0/3721
?/? c.533A>G r.(?) p.(Glu178Gly) g.110406207A>G Copied from the Exome Variant Server PAK3_000032 1/10563 0/6728 1/3835
?/? c.600+14G>C r.(=) p.(=) g.110406288G>C Copied from the Exome Variant Server PAK3_000033 1/10563 0/6728 1/3835
?/? c.600+41C>G r.(=) p.(=) g.110406315C>G Copied from the Exome Variant Server PAK3_000034 14/10563 13/6728 1/3835
?/? c.605A>G r.(?) p.(Tyr202Cys) g.110406794A>G Copied from the Exome Variant Server PAK3_000035 1/10563 1/6728 0/3835
?/? c.691A>T r.(?) p.(Ser231Cys) g.110406880A>T Copied from the Exome Variant Server PAK3_000036 1/10563 1/6728 0/3835
?/? c.707A>G r.(?) p.(Asn236Ser) g.110406896A>G Copied from the Exome Variant Server PAK3_000037 1/10563 1/6728 0/3835
?/? c.766+35G>T r.(=) p.(=) g.110406990G>T Copied from the Exome Variant Server PAK3_000038 8/10561 0/6726 8/3835
?/? c.767-63_767-58del r.(=) p.(=) g.110416183_110416188del Copied from the Exome Variant Server PAK3_000039 39/10143 30/6444 9/3699
?/? c.767-61_767-58del r.(=) p.(=) g.110416185_110416188del Copied from the Exome Variant Server PAK3_000040 223/10143 150/6444 73/3699
?/? c.767-61_767-58dup r.(=) p.(=) g.110416185_110416188dup Copied from the Exome Variant Server PAK3_000041 42/10143 27/6444 15/3699
?/? c.767-59_767-58del r.(=) p.(=) g.110416187_110416188del Copied from the Exome Variant Server PAK3_000042 2342/10143 1553/6444 789/3699
?/? c.767-59_767-58dup r.(=) p.(=) g.110416187_110416188dup Copied from the Exome Variant Server PAK3_000043 58/10143 34/6444 24/3699
?/? c.830+23A>G r.(=) p.(=) g.110416332A>G Copied from the Exome Variant Server PAK3_000044 3/10556 2/6724 1/3832
?/? c.830+67G>C r.(=) p.(=) g.110416376G>C Copied from the Exome Variant Server PAK3_000045 8/3598 0/2389 8/1209
?/? c.849T>C r.(=) p.(=) g.110435373T>C Copied from the Exome Variant Server PAK3_000046 2/10563 2/6728 0/3835
?/? c.879+12C>T r.(=) p.(=) g.110435415C>T Copied from the Exome Variant Server PAK3_000048 1/10563 0/6728 1/3835
?/? c.879+13G>A r.(=) p.(=) g.110435416G>A Copied from the Exome Variant Server PAK3_000050 2/10563 1/6728 1/3835
?/? c.879+48_879+54del r.(=) p.(=) g.110435451_110435457del Copied from the Exome Variant Server PAK3_000052 3/10203 3/6482 0/3721
?/? c.879+77del r.(=) p.(=) g.110435480del Copied from the Exome Variant Server PAK3_000054 1/10200 1/6482 0/3718
?/? c.880-34T>A r.(=) p.(=) g.110435700T>A Copied from the Exome Variant Server PAK3_000047 1/10551 1/6716 0/3835
?/? c.880-21T>C r.(=) p.(=) g.110435713T>C Copied from the Exome Variant Server PAK3_000049 2/10555 2/6720 0/3835
?/? c.918G>A r.(=) p.(=) g.110435772G>A Copied from the Exome Variant Server PAK3_000051 5/10556 4/6721 1/3835
?/? c.921G>A r.(=) p.(=) g.110435775G>A Copied from the Exome Variant Server PAK3_000053 1/10556 1/6721 0/3835
?/? c.993-36C>T r.(=) p.(=) g.110437493C>T Copied from the Exome Variant Server PAK3_000055 1/10563 0/6728 1/3835
?/? c.993-22G>A r.(=) p.(=) g.110437507G>A Copied from the Exome Variant Server PAK3_000056 2/10563 2/6728 0/3835
?/? c.993-22_993-21insTCTTT r.(=) p.(=) g.110437507_110437508insTCTTT Copied from the Exome Variant Server PAK3_000057 14/10205 0/6484 14/3721
?/? c.1185C>T r.(=) p.(=) g.110439144C>T Copied from the Exome Variant Server PAK3_000058 139/10563 0/6728 139/3835
?/? c.1278A>G r.(=) p.(=) g.110439739A>G Copied from the Exome Variant Server PAK3_000059 1/10563 1/6728 0/3835
?/? c.1407+50C>T r.(=) p.(=) g.110439918C>T Copied from the Exome Variant Server PAK3_000060 87/10540 0/6717 87/3823
?/? c.1518G>A r.(=) p.(=) g.110459759G>A Copied from the Exome Variant Server PAK3_000061 2/10563 2/6728 0/3835
?/? c.1545+23A>G r.(=) p.(=) g.110459809A>G Copied from the Exome Variant Server PAK3_000062 2/10563 2/6728 0/3835
?/? c.1545+41C>G r.(=) p.(=) g.110459827C>G Copied from the Exome Variant Server PAK3_000063 768/10563 191/6728 577/3835
?/? c.1573C>G r.(?) p.(Leu525Val) g.110463613C>G Copied from the Exome Variant Server PAK3_000064 1/10563 1/6728 0/3835
?/? c.1579A>G r.(?) p.(Ser527Gly) g.110463619A>G Copied from the Exome Variant Server PAK3_000065 1/10563 0/6728 1/3835
?/? c.*18C>T r.(=) p.(=) g.110463693C>T Copied from the Exome Variant Server PAK3_000066 14/10563 0/6728 14/3835
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