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.G1737S

c.5209G>A

Surrounding Variants

1 paper

NM_006015.6

p.V1736insFs

c.5207dupT

1 paper

NM_006015.6

p.P1739delFs

c.5216delC

1 paper

NM_006015.6

p.E1735E

c.5205G>A

1 paper

NM_006015.6

p.E1735D

c.5205G>C

1 paper

NM_006015.6

p.E1735D

c.5205G>T

1 paper

NM_006015.6

p.P1739fs

c.5215_5216fs

2 papers

NM_006015.6

p.E1735K

c.5203G>A

1 paper

NM_006015.6

p.E1735fs

c.5203_5204fs

1 paper

NM_006015.6

p.E1735*

c.5203G>T

1 paper

NM_006015.6

p.P1739R

c.5216C>G

6 papers

NM_006015.6

p.Y1734*

c.5202T>A

5 papers

NM_006015.6

p.Y1734*

c.5202T>G