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.G189_G190delFs

c.566_569del4

Surrounding Variants

2 papers

NM_006015.6

p.G189fs

c.565_566fs

2 papers

NM_006015.6

p.G189delFs

c.566_567delGC

1 paper

NM_006015.6

p.G188S

c.562G>A

1 paper

NM_006015.6

p.G188fs

c.562_563fs

2 papers

NM_006015.6

p.G191insFs

c.572dupG

1 paper

NM_006015.6

p.G188delFs

c.562delG

1 paper

NM_006015.6

p.G190del1

c.568_569delGGG

3 papers

NM_006015.6

p.G190R

c.568G>A

3 papers

NM_006015.6

p.G190R

c.568G>C

1 paper

NM_006015.6

p.G190_A196delFs

c.569_587del19

1 paper

NM_006015.6

p.G187S

c.559G>A

1 paper

NM_006015.6

p.G190A

c.569G>C