Transcript #00000512 (NM_001939.2, DRP2 gene)

Transcript name transcript variant 1
Gene name DRP2 (dystrophin related protein 2)
Chromosome X
Transcript - NCBI ID NM_001939.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001930.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

72 entries on 1 page. Showing entries 1 - 72.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_24_ c.-32054_*123659del r.0 p.0
+/. _1_24_ c.-4715_*104676del r.0 p.0
?/. - c.-167+163_-167+168dup r.(=) p.(=)
?/. - c.-167+165_-167+168dup r.(=) p.(=)
?/. - c.-63-241C>A r.(=) p.(=)
?/. - c.10A>G r.(?) p.(Met4Val)
?/. - c.86del r.(?) p.(Ser29ThrfsTer31)
?/. - c.86del r.(?) p.(Ser29ThrfsTer31)
-?/. - c.95G>A r.(?) p.(Arg32Gln)
-?/. - c.135C>T r.(?) p.(Thr45=)
?/. 4 c.180C>A r.(?) p.(Ser60Arg)
-/. - c.180C>A r.(?) p.(Ser60Arg)
?/. - c.197G>A r.(?) p.(Gly66Glu)
?/. - c.202G>C r.(?) p.(Val68Leu)
-/. - c.202G>C r.(?) p.(Val68Leu)
?/. - c.202G>C r.(?) p.(Val68Leu)
?/. 4 c.202G>C r.(?) p.(Val68Leu)
-?/. - c.305A>G r.(?) p.(Asp102Gly)
-/. - c.435T>C r.(?) p.(His145=)
-/. - c.438+9G>A r.(=) p.(=)
-?/. - c.439G>A r.(?) p.(Ala147Thr)
?/. 5 c.439G>A r.(?) p.(Ala147Thr)
-?/. - c.439G>A r.(?) p.(Ala147Thr)
?/. - c.569C>G r.(?) p.(Pro190Arg)
?/. - c.583C>T r.(?) p.(Gln195Ter)
?/. - c.614C>T r.(?) p.(Ala205Val)
-?/. - c.618G>A r.(?) p.(Thr206=)
?/. - c.646A>G r.(?) p.(Thr216Ala)
-?/. - c.844T>C r.(?) p.(Phe282Leu)
?/. - c.1019G>A r.(?) p.(Arg340Gln)
?/. 10 c.1115+1G>C r.spl p.?
?/. - c.1159G>A r.(?) p.(Glu387Lys)
-?/. - c.1321G>A r.(?) p.(Val441Met)
?/. - c.1383A>C r.(?) p.(Glu461Asp)
-/. - c.1454+5G>A r.spl? p.?
-?/. - c.1454+5G>A r.spl? p.?
?/. 13 c.1454+5G>A r.spl? p.?
?/. 14 c.1517C>T r.(?) p.(Thr506Met)
?/. - c.1698+48G>C r.(=) p.(=)
?/. - c.1698+48G>C r.(=) p.(=)
?/. - c.1705G>A r.(?) p.(Gly569Arg)
-/. - c.1755G>A r.(?) p.(Glu585=)
?/. 16 c.1755G>A r.(=) p.(=)
-/. - c.1947G>T r.(?) p.(Leu649=)
?/. 17 c.1947G>T r.(=) p.(=)
?/. - c.1978-252_1978-251insTT r.(=) p.(=)
?/. - c.1978-252_1978-251insTT r.(=) p.(=)
-?/. - c.2142C>T r.(?) p.(His714=)
?/. - c.2146G>A r.(?) p.(Asp716Asn)
-/. - c.2247-9C>T r.(=) p.(=)
?/. - c.2247-9C>T r.(=) p.(=)
?/. - c.2247-9C>T r.(=) p.(=)
?/. - c.2291A>G r.(?) p.(Asp764Gly)
?/. - c.2293C>T r.(?) p.(Arg765Trp)
?/. - c.2510C>T r.(?) p.(Ala837Val)
-?/. - c.2568C>T r.(?) p.(Leu856=)
-?/. - c.2604G>A r.(?) p.(Gln868=)
?/. - c.2629-410T>C r.(=) p.(=)
?/. - c.2629-285C>T r.(=) p.(=)
?/. - c.2629-285C>T r.(=) p.(=)
?/. - c.2629-52G>A r.(=) p.(=)
?/. - c.2629-52G>A r.(=) p.(=)
?/. - c.2666C>T r.(?) p.(Ser889Leu)
?/. - c.2750-154A>G r.(=) p.(=)
?/. - c.2750-154A>G r.(=) p.(=)
?/. - c.2822T>C r.(?) p.(Phe941Ser)
?/. - c.*182A>G r.(=) p.(=)
?/. - c.*182A>G r.(=) p.(=)
?/. - c.*724_*725dup r.(=) p.(=)
-?/. - c.*8587C>T r.(=) p.(=)
-?/. - c.*8587C>T r.(=) p.(=)
-?/. - c.*8602T>C r.(=) p.(=)
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