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.G81_G82delFs

c.241_245del5

Surrounding Variants

3 papers

NM_006015.6

p.N80S

c.239A>G

1 paper

NM_006015.6

p.G81R

c.241G>A

1 paper

NM_006015.6

p.G81fs

c.241_242fs

1 paper

NM_006015.6

p.N80H

c.238A>C

1 paper

NM_006015.6

p.N80_G82delFs

c.239_245del7

1 paper

NM_006015.6

p.G81E

c.242G>A

1 paper

NM_006015.6

p.G81A

c.242G>C

3 papers

NM_006015.6

p.G81V

c.242G>T

1 paper

NM_006015.6

p.S79R

c.237C>G

2 papers

NM_006015.6

p.G82S

c.244G>A

2 papers

NM_006015.6

p.G82R

c.244G>C

1 paper

NM_006015.6

p.G82fs

c.244_245fs