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.T292T

c.876C>T

Surrounding Variants

1 paper

NM_006015.6

p.T292T

c.876C>G

3 papers

NM_006015.6

p.T292I

c.875C>T

1 paper

NM_006015.6

p.P293insFs

c.879dupC

3 papers

NM_006015.6

p.T292fs

c.874_875fs

2 papers

NM_006015.6

p.T292P

c.874A>C

2 papers

NM_006015.6

p.P293delFs

c.879delC

1 paper

NM_006015.6

p.T292fs

c.874_875fs

1 paper

NM_006015.6

p.P293H

c.878C>A

1 paper

NM_006015.6

p.P293_T294delFs

c.879_880delCA

1 paper

NM_006015.6

p.T292delFs

c.874delA

1 paper

NM_006015.6

p.T294delFs

c.880delA

1 paper

NM_006015.6

p.L295insFs

c.883dupC