Transcript #00001460

Transcript name BRCA1 associated RING domain 1
Gene name BARD1 (BRCA1 associated RING domain 1)
Chromosome 2
Transcript - NCBI ID NM_000465.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000456.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

121 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-48T>C r.(=) p.(=)
?/? c.-30G>C r.(=) p.(=)
?/? c.33G>T r.(?) p.(Gln11His)
?/? c.70C>T r.(?) p.(Pro24Ser)
?/? c.90T>A r.(=) p.(=)
?/? c.144G>A r.(=) p.(=)
?/? c.158+46A>C r.(=) p.(=)
?/? c.159-70T>G r.(=) p.(=)
?/? c.159-42A>C r.(=) p.(=)
?/? c.215+12C>T r.(=) p.(=)
?/? c.215+22T>C r.(=) p.(=)
?/? c.215+59_215+60del r.(=) p.(=)
?/? c.215+68del r.(=) p.(=)
?/? c.250C>T r.(?) p.(Pro84Ser)
?/? c.253G>T r.(?) p.(Val85Leu)
?/? c.279A>G r.(=) p.(=)
?/? c.304G>A r.(?) p.(Asp102Asn)
?/? c.308G>A r.(?) p.(Ser103Asn)
?/? c.346C>T r.(?) p.(His116Tyr)
?/? c.348T>C r.(=) p.(=)
?/? c.353A>G r.(?) p.(Asn118Ser)
?/? c.364+17T>C r.(=) p.(=)
?/? c.365-8del r.(=) p.(=)
?/? c.562C>T r.(?) p.(Pro188Ser)
?/? c.568G>A r.(?) p.(Asp190Asn)
?/? c.586A>G r.(?) p.(Lys196Glu)
?/? c.609A>C r.(=) p.(=)
?/? c.620A>G r.(?) p.(Lys207Arg)
?/? c.659T>C r.(?) p.(Leu220Ser)
?/? c.665C>T r.(?) p.(Ala222Val)
?/? c.668A>G r.(?) p.(Glu223Gly)
?/? c.716T>A r.(?) p.(Leu239Gln)
?/? c.737C>A r.(?) p.(Pro246Gln)
?/? c.764A>G r.(?) p.(Asn255Ser)
?/? c.842C>T r.(?) p.(Pro281Leu)
?/? c.907G>A r.(?) p.(Val303Ile)
?/? c.944C>T r.(?) p.(Pro315Leu)
?/? c.1028C>T r.(?) p.(Thr343Ile)
?/? c.1053G>C r.(=) p.(=)
?/? c.1059C>G r.(=) p.(=)
?/? c.1084T>G r.(?) p.(Cys362Gly)
?/? c.1104C>G r.(?) p.(Cys368Trp)
?/? c.1134G>C r.(?) p.(Arg378Ser)
?/? c.1152C>T r.(=) p.(=)
?/? c.1190C>A r.(?) p.(Ser397Tyr)
?/? c.1203T>C r.(=) p.(=)
?/? c.1216C>G r.(?) p.(Arg406Gly)
?/? c.1305T>G r.(=) p.(=)
?/? c.1314+11T>G r.(=) p.(=)
?/? c.1314+13C>T r.(=) p.(=)
?/? c.1314+29C>G r.(=) p.(=)
?/? c.1314+37G>C r.(=) p.(=)
?/? c.1315-26A>G r.(=) p.(=)
?/? c.1315-19G>A r.(=) p.(=)
?/? c.1317C>T r.(=) p.(=)
?/? c.1339C>G r.(?) p.(Leu447Val)
?/? c.1347A>G r.(=) p.(=)
?/? c.1353A>T r.(=) p.(=)
?/? c.1372G>C r.(?) p.(Asp458His)
?/? c.1383A>G r.(=) p.(=)
?/? c.1395+29T>C r.(=) p.(=)
?/? c.1395+50T>C r.(=) p.(=)
?/? c.1439T>C r.(?) p.(Leu480Ser)
?/? c.1473G>A r.(=) p.(=)
?/? c.1479A>G r.(=) p.(=)
?/? c.1515G>T r.(=) p.(=)
?/? c.1518T>C r.(=) p.(=)
?/? c.1519G>A r.(?) p.(Val507Met)
?/? c.1520_1521del r.(?) p.(Val507Glyfs*17)
?/? c.1533G>A r.(=) p.(=)
?/? c.1554C>T r.(=) p.(=)
?/? c.1568+14C>T r.(=) p.(=)
?/? c.1568+39C>G r.(=) p.(=)
?/? c.1568+42T>C r.(=) p.(=)
?/? c.1568+51A>G r.(=) p.(=)
?/? c.1585C>T r.(?) p.(Arg529Trp)
?/? c.1613G>A r.(?) p.(Ser538Asn)
?/? c.1670G>C r.(?) p.(Cys557Ser)
?/? c.1677+43A>G r.(=) p.(=)
?/? c.1678-43C>T r.(=) p.(=)
?/? c.1678-38A>C r.(=) p.(=)
?/? c.1678-20A>G r.(=) p.(=)
?/? c.1678-18C>G r.(=) p.(=)
?/? c.1694G>A r.(?) p.(Arg565His)
?/? c.1734T>A r.(=) p.(=)
?/? c.1738G>A r.(?) p.(Glu580Lys)
?/? c.1757G>C r.(?) p.(Ser586Thr)
?/? c.1793C>A r.(?) p.(Thr598Asn)
?/? c.1810+38A>T r.(=) p.(=)
?/? c.1810+39T>G r.(=) p.(=)
?/? c.1810+45A>C r.(=) p.(=)
?/? c.1811-24C>G r.(=) p.(=)
?/? c.1835A>T r.(?) p.(Asp612Val)
?/? c.1838C>A r.(?) p.(Ala613Glu)
?/? c.1866T>C r.(=) p.(=)
?/? c.1882T>C r.(?) p.(Cys628Arg)
?/? c.1904-51T>G r.(=) p.(=)
?/? c.1904-45G>A r.(=) p.(=)
?/? c.1904-36A>T r.(=) p.(=)
?/? c.1904-32T>A r.(=) p.(=)
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