Transcript #00006937

Transcript name G patch domain containing 2
Gene name GPATCH2 (G patch domain containing 2)
Chromosome 1
Transcript - NCBI ID NM_018040.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_060510.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

79 entries on 1 page. Showing entries 1 - 79.
Legend  

Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-12C>T r.(=) p.(=)
?/? c.56G>C r.(?) p.(Trp19Ser)
?/? c.56+6G>A r.(=) p.(=)
?/? c.56+14C>T r.(=) p.(=)
?/? c.56+48T>C r.(=) p.(=)
?/? c.56+50C>A r.(=) p.(=)
?/? c.97G>A r.(?) p.(Val33Ile)
?/? c.180T>C r.(=) p.(=)
?/? c.217C>T r.(?) p.(Arg73Trp)
?/? c.247G>C r.(?) p.(Glu83Gln)
?/? c.262T>G r.(?) p.(Leu88Val)
?/? c.288A>G r.(=) p.(=)
?/? c.300C>G r.(?) p.(Ser100Arg)
?/? c.414G>A r.(=) p.(=)
?/? c.464A>C r.(?) p.(Asn155Thr)
?/? c.465T>C r.(=) p.(=)
?/? c.476G>A r.(?) p.(Arg159His)
?/? c.492A>G r.(=) p.(=)
?/? c.523A>T r.(?) p.(Ile175Phe)
?/? c.599A>G r.(?) p.(Gln200Arg)
?/? c.635G>C r.(?) p.(Arg212Thr)
?/? c.655C>G r.(?) p.(Gln219Glu)
?/? c.673G>A r.(?) p.(Asp225Asn)
?/? c.717T>A r.(?) p.(Asn239Lys)
?/? c.728T>C r.(?) p.(Met243Thr)
?/? c.764_765insT r.(?) p.(Met255Ilefs*3)
?/? c.773+12A>T r.(=) p.(=)
?/? c.773+30T>C r.(=) p.(=)
?/? c.794G>A r.(?) p.(Ser265Asn)
?/? c.802G>A r.(?) p.(Ala268Thr)
?/? c.830G>C r.(?) p.(Arg277Thr)
?/? c.832C>T r.(?) p.(Gln278*)
?/? c.836-20_836-19insGG r.(=) p.(=)
?/? c.836-19del r.(=) p.(=)
?/? c.836-19dup r.(=) p.(=)
?/? c.836-10A>G r.(=) p.(=)
?/? c.836-5C>T r.spl? p.?
?/? c.843_845del r.(?) p.(Asp281del)
?/? c.857G>C r.(?) p.(Trp286Ser)
?/? c.873A>G r.(=) p.(=)
?/? c.928C>A r.(?) p.(Pro310Thr)
?/? c.931A>G r.(?) p.(Thr311Ala)
?/? c.942C>T r.(=) p.(=)
?/? c.1003C>T r.(?) p.(His335Tyr)
?/? c.1018+34G>C r.(=) p.(=)
?/? c.1019-51A>G r.(=) p.(=)
?/? c.1019-45C>A r.(=) p.(=)
?/? c.1040G>A r.(?) p.(Arg347His)
?/? c.1066A>G r.(?) p.(Ile356Val)
?/? c.1150G>T r.(?) p.(Asp384Tyr)
?/? c.1167-34G>C r.(=) p.(=)
?/? c.1206+11T>C r.(=) p.(=)
?/? c.1206+28G>A r.(=) p.(=)
?/? c.1206+61C>A r.(=) p.(=)
?/? c.1207-20T>C r.(=) p.(=)
?/? c.1207-19G>A r.(=) p.(=)
?/? c.1218G>A r.(=) p.(=)
?/? c.1229G>A r.(?) p.(Arg410Gln)
?/? c.1277+20T>C r.(=) p.(=)
?/? c.1278-13T>A r.(=) p.(=)
?/? c.1296A>G r.(=) p.(=)
?/? c.1299A>G r.(=) p.(=)
?/? c.1310C>T r.(?) p.(Thr437Met)
?/? c.1311G>A r.(=) p.(=)
?/? c.1360_1362del r.(?) p.(Thr454del)
?/? c.1366+15G>T r.(=) p.(=)
?/? c.1367-27A>C r.(=) p.(=)
?/? c.1367-19T>C r.(=) p.(=)
?/? c.1367-15G>T r.(=) p.(=)
?/? c.1420A>G r.(?) p.(Met474Val)
?/? c.1442C>T r.(?) p.(Thr481Met)
?/? c.1489A>T r.(?) p.(Ile497Phe)
?/? c.1500G>T r.(?) p.(Met500Ile)
?/? c.1510A>G r.(?) p.(Lys504Glu)
?/? c.1539A>G r.(=) p.(=)
?/? c.1552G>A r.(?) p.(Ala518Thr)
?/? c.1568A>G r.(?) p.(Asn523Ser)
?/? c.1581C>T r.(=) p.(=)
?/? c.1582G>A r.(?) p.(Ala528Thr)
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