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.Y311delFs

c.933delC

Surrounding Variants

1 paper

NM_006015.6

p.Y311C

c.932A>G

1 paper

NM_006015.6

p.Y311N

c.931T>A

1 paper

NM_006015.6

p.Y311fs

c.931_932fs

1 paper

NM_006015.6

p.P312_D322del11

c.934_965del33

1 paper

NM_006015.6

p.P312S

c.934C>T

1 paper

NM_006015.6

p.P312_D322del0

c.936_965del30

2 papers

NM_006015.6

p.G310D

c.929G>A

1 paper

NM_006015.6

p.Y311del1

c.931_932delTAC

1 paper

NM_006015.6

p.G314insFs

c.941dupG

4 papers

NM_006015.6

p.G313delFs

c.937delG

2 papers

NM_006015.6

p.Q309H

c.927G>C

1 paper

NM_006015.6

p.Q309H

c.927G>T