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.G1792D

c.5375G>A

Surrounding Variants

1 paper

NM_006015.6

p.G1792S

c.5374G>A

1 paper

NM_006015.6

p.K1793fs

c.5377_5378fs

1 paper

NM_006015.6

p.S1791S

c.5373A>C

1 paper

NM_006015.6

p.K1793*

c.5377A>T

11 papers

NM_006015.6

p.S1791*

c.5372C>A

11 papers

NM_006015.6

p.S1791*

c.5372C>G

3 papers

NM_006015.6

p.S1791L

c.5372C>T

1 paper

NM_006015.6

p.S1791fs

c.5371_5372fs

3 papers

NM_006015.6

p.S1791fs

c.5371_5372fs

1 paper

NM_006015.6

p.D1794fs

c.5380_5381fs

2 papers

NM_006015.6

p.D1794_K1795insFs

c.5382_5383insC

1 paper

NM_006015.6

p.D1794E

c.5382C>A