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

2 papers

NM_006015.6

p.G1293E

c.3878G>A

Surrounding Variants

1 paper

NM_006015.6

p.G1293A

c.3878G>C

2 papers

NM_006015.6

p.G1293*

c.3877G>T

1 paper

NM_006015.6

p.I1294delFs

c.3881delT

2 papers

NM_006015.6

p.E1291D

c.3873G>C

2 papers

NM_006015.6

p.E1291D

c.3873G>T

2 papers

NM_006015.6

p.G1295E

c.3884G>A

1 paper

NM_006015.6

p.E1291K

c.3871G>A

2 papers

NM_006015.6

p.E1291*

c.3871G>T

2 papers

NM_006015.6

p.P1296delFs

c.3887delC

1 paper

NM_006015.6

p.P1296fs

c.3886_3887fs

1 paper

NM_006015.6

p.T1290T

c.3870G>A

1 paper

NM_006015.6

p.T1290M

c.3869C>T