Transcript #00013974

Transcript name transcript variant 1
Gene name PCDHGA2 (protocadherin gamma subfamily A, 2)
Chromosome 5
Transcript - NCBI ID NM_018915.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_061738.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

2120 entries on 22 pages. Showing entries 1 - 100.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.14A>G r.(?) p.(Gln5Arg)
?/? c.16A>C r.(?) p.(Lys6Gln)
?/? c.28T>C r.(?) p.(Cys10Arg)
?/? c.40G>A r.(?) p.(Val14Ile)
?/? c.63G>T r.(=) p.(=)
?/? c.144C>G r.(?) p.(Ile48Met)
?/? c.181G>C r.(?) p.(Glu61Gln)
?/? c.183G>A r.(=) p.(=)
?/? c.212G>T r.(?) p.(Arg71Met)
?/? c.213G>A r.(=) p.(=)
?/? c.253G>A r.(?) p.(Val85Ile)
?/? c.260C>A r.(?) p.(Ala87Glu)
?/? c.261G>A r.(=) p.(=)
?/? c.298G>T r.(?) p.(Ala100Ser)
?/? c.345_348del r.(?) p.(Tyr117Glnfs*2)
?/? c.359A>G r.(?) p.(Glu120Gly)
?/? c.367A>C r.(?) p.(Ile123Leu)
?/? c.398T>C r.(?) p.(Phe133Ser)
?/? c.425T>C r.(?) p.(Ile142Thr)
?/? c.456T>G r.(?) p.(Ile152Met)
?/? c.458C>T r.(?) p.(Pro153Leu)
?/? c.470C>A r.(?) p.(Ala157Glu)
?/? c.471G>C r.(=) p.(=)
?/? c.507G>A r.(=) p.(=)
?/? c.528C>T r.(=) p.(=)
?/? c.552G>A r.(=) p.(=)
?/? c.604C>G r.(?) p.(Arg202Gly)
?/? c.635T>C r.(?) p.(Leu212Pro)
?/? c.638T>C r.(?) p.(Val213Ala)
?/? c.653G>T r.(?) p.(Gly218Val)
?/? c.686G>A r.(?) p.(Cys229Tyr)
?/? c.692A>G r.(?) p.(Lys231Arg)
?/? c.745A>T r.(?) p.(Ile249Leu)
?/? c.749G>A r.(?) p.(Ser250Asn)
?/? c.778C>G r.(?) p.(Arg260Gly)
?/? c.779G>A r.(?) p.(Arg260Gln)
?/? c.793A>G r.(?) p.(Thr265Ala)
?/? c.880_881insTTAA r.(?) p.(Lys295Asnfs*2)
?/? c.892T>C r.(?) p.(Ser298Pro)
?/? c.903G>A r.(=) p.(=)
?/? c.925T>A r.(?) p.(Tyr309Asn)
?/? c.940T>C r.(?) p.(Phe314Leu)
?/? c.966G>C r.(?) p.(Gln322His)
?/? c.974C>T r.(?) p.(Pro325Leu)
?/? c.1002C>A r.(=) p.(=)
?/? c.1004T>A r.(?) p.(Val335Asp)
?/? c.1014G>T r.(=) p.(=)
?/? c.1018G>A r.(?) p.(Val340Met)
?/? c.1021_1026del r.(?) p.(Asp342_Asn343del)
?/? c.1031C>T r.(?) p.(Ala344Val)
?/? c.1060A>G r.(?) p.(Ser354Gly)
?/? c.1061G>C r.(?) p.(Ser354Thr)
?/? c.1095A>G r.(?) p.(Ile365Met)
?/? c.1110T>C r.(=) p.(=)
?/? c.1156C>T r.(?) p.(Leu386Phe)
?/? c.1258A>G r.(?) p.(Ile420Val)
?/? c.1271del r.(?) p.(Ala424Valfs*51)
?/? c.1286A>T r.(?) p.(Asn429Ile)
?/? c.1288C>A r.(?) p.(Pro430Thr)
?/? c.1293C>A r.(=) p.(=)
?/? c.1302G>A r.(=) p.(=)
?/? c.1328C>T r.(?) p.(Ala443Val)
?/? c.1346C>T r.(?) p.(Ala449Val)
?/? c.1360C>T r.(?) p.(Arg454Cys)
?/? c.1403G>A r.(?) p.(Gly468Glu)
?/? c.1418C>G r.(?) p.(Ser473*)
?/? c.1425G>C r.(=) p.(=)
?/? c.1437C>T r.(=) p.(=)
?/? c.1453G>A r.(?) p.(Ala485Thr)
?/? c.1465T>C r.(?) p.(Tyr489His)
?/? c.1492G>C r.(?) p.(Gly498Arg)
?/? c.1534G>A r.(?) p.(Gly512Arg)
?/? c.1540C>T r.(?) p.(Leu514Phe)
?/? c.1542C>T r.(=) p.(=)
?/? c.1572G>T r.(?) p.(Gln524His)
?/? c.1582T>A r.(?) p.(Leu528Met)
?/? c.1602G>A r.(=) p.(=)
?/? c.1604G>A r.(?) p.(Arg535Gln)
?/? c.1606G>T r.(?) p.(Asp536Tyr)
?/? c.1629T>C r.(=) p.(=)
?/? c.1645A>C r.(?) p.(Ser549Arg)
?/? c.1653C>G r.(?) p.(Phe551Leu)
?/? c.1674C>T r.(=) p.(=)
?/? c.1695T>C r.(=) p.(=)
?/? c.1699T>C r.(?) p.(Phe567Leu)
?/? c.1703C>G r.(?) p.(Pro568Arg)
?/? c.1711G>T r.(?) p.(Gly571Cys)
?/? c.1719T>C r.(=) p.(=)
?/? c.1734G>T r.(=) p.(=)
?/? c.1737C>T r.(=) p.(=)
?/? c.1779G>T r.(=) p.(=)
?/? c.1783G>A r.(?) p.(Asp595Asn)
?/? c.1820A>G r.(?) p.(His607Arg)
?/? c.1827C>G r.(=) p.(=)
?/? c.1836C>A r.(?) p.(Ser612Arg)
?/? c.1841C>A r.(?) p.(Pro614Gln)
?/? c.1842G>A r.(=) p.(=)
?/? c.1868C>T r.(?) p.(Thr623Met)
?/? c.1880G>A r.(?) p.(Arg627His)
?/? c.1926C>A r.(=) p.(=)
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