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.P111fs

c.331_332fs

Surrounding Variants

2 papers

NM_006015.6

p.P111S

c.331C>T

1 paper

NM_006015.6

p.P111H

c.332C>A

2 papers

NM_006015.6

p.R110fs

c.328_329fs

1 paper

NM_006015.6

p.R110_P111ins8

c.328_332ins24

1 paper

NM_006015.6

p.R110W

c.328A>T

3 papers

NM_006015.6

p.R110fs

c.328_329fs

1 paper

NM_006015.6

p.A112T

c.334G>A

1 paper

NM_006015.6

p.A112S

c.334G>T

1 paper

NM_006015.6

p.A112V

c.335C>T

1 paper

NM_006015.6

p.P109R

c.326C>G

1 paper

NM_006015.6

p.P109fs

c.325_326fs

1 paper

NM_006015.6

p.L113fs

c.337_338fs