Varaico: Literature-Extracted Genetic Variants

ARID1A

2,994 papers

RefSeq Summary

This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure aroun...

Pfam Domains

ARIDaa 1019–1104UCSCARID/BRIGHT DNA binding domain

BAF250_Caa 1976–2231UCSCSWI/SNF-like complex subunit BAF250/Osa

Gene Aliases

HGNC Name

AT-rich interaction domain 1A

HGNC Previous Symbols

C1orf4; SMARCF1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 7133 variants

110 papers

NM_006015.6

p.R1989*

c.5965C>T

71 papers

NM_006015.6

p.R1276*

c.3826C>T

54 papers

NM_006015.6

p.D1850fs

c.5548_5549fs

53 papers

NM_006015.6

p.R1722*

c.5164C>T

52 papers

NM_006015.6

p.D1850fs

c.5548_5549fs

51 papers

NM_006015.6

p.G2087R

c.6259G>A

50 papers

NM_006015.6

p.G2087R

c.6259G>C

47 papers

NM_006015.6

p.D1850insFs

c.5548dupG

46 papers

NM_006015.6

p.R1721*

c.5161C>T

44 papers

NM_006015.6

p.R1335*

c.4003C>T

40 papers

NM_006015.6

p.D1850delFs

c.5548delG

38 papers

NM_006015.6

p.Q4H

c.12G>C