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

2 papers

NM_006015.6

p.P320S

c.958C>T

Surrounding Variants

2 papers

NM_006015.6

p.P320fs

c.958_959fs

1 paper

NM_006015.6

p.P320A

c.958C>G

1 paper

NM_006015.6

p.P320R

c.959C>G

2 papers

NM_006015.6

p.P320L

c.959C>T

1 paper

NM_006015.6

p.G319E

c.956G>A

2 papers

NM_006015.6

p.Q321fs

c.961_962fs

1 paper

NM_006015.6

p.Q321E

c.961C>G

3 papers

NM_006015.6

p.Q321*

c.961C>T

1 paper

NM_006015.6

p.Q321fs

c.961_962fs

3 papers

NM_006015.6

p.G319fs

c.955_956fs

1 paper

NM_006015.6

p.G319W

c.955G>T

1 paper

NM_006015.6

p.G319_A325delFs

c.956_975del20