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

4 papers

NM_006015.6

p.R1262H

c.3785G>A

Surrounding Variants

6 papers

NM_006015.6

p.R1262C

c.3784C>T

1 paper

NM_006015.6

p.A1263delFs

c.3788delC

1 paper

NM_006015.6

p.S1261I

c.3782G>T

1 paper

NM_006015.6

p.A1264T

c.3790G>A

1 paper

NM_006015.6

p.A1264A

c.3792C>T

1 paper

NM_006015.6

p.Y1260D

c.3778T>G

1 paper

NM_006015.6

p.Y1260fs

c.3778_3779fs

2 papers

NM_006015.6

p.Y1260fs

c.3778_3779fs

2 papers

NM_006015.6

p.G1265S

c.3793G>A

1 paper

NM_006015.6

p.P1259fs

c.3775_3776fs

1 paper

NM_006015.6

p.D1258E

c.3774C>A

1 paper

NM_006015.6

p.D1258E

c.3774C>G