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.D315A

c.944A>C

Surrounding Variants

1 paper

NM_006015.6

p.D315_Y316insFs

c.945_946insG

1 paper

NM_006015.6

p.D315N

c.943G>A

1 paper

NM_006015.6

p.D315fs

c.943_944fs

1 paper

NM_006015.6

p.D315fs

c.943_944fs

1 paper

NM_006015.6

p.G314G

c.942C>T

1 paper

NM_006015.6

p.D315delFs

c.943_944delGA

1 paper

NM_006015.6

p.Y316fs

c.946_947fs

1 paper

NM_006015.6

p.Y316F

c.947A>T

1 paper

NM_006015.6

p.G314D

c.941G>A

1 paper

NM_006015.6

p.G314V

c.941G>T

6 papers

NM_006015.6

p.G314fs

c.940_941fs

3 papers

NM_006015.6

p.G314fs

c.940_941fs