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

23 papers

NM_006015.6

p.Q4Q

c.12G>A

Surrounding Variants

38 papers

NM_006015.6

p.Q4H

c.12G>C

1 paper

NM_006015.6

p.Q4H

c.12G>T

1 paper

NM_006015.6

p.Q4R

c.11A>G

1 paper

NM_006015.6

p.V5I

c.13G>A

7 papers

NM_006015.6

p.V5L

c.13G>C

1 paper

NM_006015.6

p.V5fs

c.13_14fs

1 paper

NM_006015.6

p.Q4*

c.10C>T

1 paper

NM_006015.6

p.V5A

c.14T>C

1 paper

NM_006015.6

p.V5insFs

c.15dupC

1 paper

NM_006015.6

p.P7_A8del2

c.19_23del6

1 paper

NM_006015.6

p.P7_P18delFs

c.19_53del35

1 paper

NM_006015.6

p.V5V

c.15C>T