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

Selected Variant

1 paper

NM_006015.6

p.P2005fs

c.6013_6014fs

Surrounding Variants

2 papers

NM_006015.6

p.P2005fs

c.6013_6014fs

1 paper

NM_006015.6

p.P2005L

c.6014C>T

1 paper

NM_006015.6

p.P2005delFs

c.6014delC

1 paper

NM_006015.6

p.H2004fs

c.6010_6011fs

2 papers

NM_006015.6

p.G2006W

c.6016G>T

1 paper

NM_006015.6

p.G2006E

c.6017G>A

1 paper

NM_006015.6

p.L2007del1

c.6019_6020delCTG

1 paper

NM_006015.6

p.K2003insFs

c.6008_6009insAC

2 papers

NM_006015.6

p.K2003R

c.6008A>G

1 paper

NM_006015.6

p.L2009_H2018del0

c.6026_6052del27

1 paper

NM_006015.6

p.K2003fs

c.6007_6008fs

1 paper

NM_006015.6

p.K2003fs

c.6007_6008fs