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.G108A

c.323G>C

Surrounding Variants

1 paper

NM_006015.6

p.P109insFs

c.326dupC

1 paper

NM_006015.6

p.G108delFs

c.324delC

1 paper

NM_006015.6

p.G108S

c.322G>A

3 papers

NM_006015.6

p.G108fs

c.322_323fs

1 paper

NM_006015.6

p.R110_L113delFs

c.328_338del11

1 paper

NM_006015.6

p.P109fs

c.325_326fs

1 paper

NM_006015.6

p.P109fs

c.325_326fs

1 paper

NM_006015.6

p.A107A

c.321G>C

1 paper

NM_006015.6

p.P109R

c.326C>G

2 papers

NM_006015.6

p.A107V

c.320C>T

3 papers

NM_006015.6

p.A107fs

c.319_320fs

1 paper

NM_006015.6

p.A107S

c.319G>T