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.Q309Fs

c.926delinsCAGFs

Surrounding Variants

1 paper

NM_006015.6

p.Q309P

c.926A>C

10 papers

NM_006015.6

p.Q309*

c.925C>T

1 paper

NM_006015.6

p.Q309fs

c.925_926fs

2 papers

NM_006015.6

p.Q309H

c.927G>C

1 paper

NM_006015.6

p.Q309H

c.927G>T

2 papers

NM_006015.6

p.Y308*

c.924C>A

2 papers

NM_006015.6

p.Y308*

c.924C>G

1 paper

NM_006015.6

p.Y308Y

c.924C>T

2 papers

NM_006015.6

p.G310D

c.929G>A

1 paper

NM_006015.6

p.Y311del1

c.931_932delTAC

1 paper

NM_006015.6

p.Y308N

c.922T>A

2 papers

NM_006015.6

p.Y308fs

c.922_923fs