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

9 papers

NM_006015.6

p.S2264*

c.6791C>A

Surrounding Variants

9 papers

NM_006015.6

p.S2264*

c.6791C>G

5 papers

NM_006015.6

p.S2264L

c.6791C>T

1 paper

NM_006015.6

p.S2264P

c.6790T>C

1 paper

NM_006015.6

p.S2264fs

c.6790_6791fs

1 paper

NM_006015.6

p.S2264delFs

c.6791delC

2 papers

NM_006015.6

p.S2264fs

c.6790_6791fs

1 paper

NM_006015.6

p.P2265T

c.6793C>A

1 paper

NM_006015.6

p.P2265S

c.6793C>T

1 paper

NM_006015.6

p.P2265Q

c.6794C>A

3 papers

NM_006015.6

p.P2265L

c.6794C>T

1 paper

NM_006015.6

p.V2263insFs

c.6789dupA

1 paper

NM_006015.6

p.V2263L

c.6787G>C