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.A330fs

c.988_989fs

Surrounding Variants

1 paper

NM_006015.6

p.A330T

c.988G>A

1 paper

NM_006015.6

p.A330V

c.989C>T

1 paper

NM_006015.6

p.P329fs

c.985_986fs

1 paper

NM_006015.6

p.P329S

c.985C>T

1 paper

NM_006015.6

p.D331N

c.991G>A

1 paper

NM_006015.6

p.D331A

c.992A>C

1 paper

NM_006015.6

p.G328R

c.982G>C

1 paper

NM_006015.6

p.K327K

c.981G>A

2 papers

NM_006015.6

p.M332I

c.996G>A

2 papers

NM_006015.6

p.M332I

c.996G>C

2 papers

NM_006015.6

p.M332I

c.996G>T

1 paper

NM_006015.6

p.K327*

c.979A>T