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.A2234D

c.6701C>A

Surrounding Variants

1 paper

NM_006015.6

p.A2234delFs

c.6702delT

1 paper

NM_006015.6

p.A2234T

c.6700G>A

1 paper

NM_006015.6

p.A2234_R2236delFs

c.6702_6706del5

1 paper

NM_006015.6

p.A2235delFs

c.6703_6704delGC

1 paper

NM_006015.6

p.A2235T

c.6703G>A

6 papers

NM_006015.6

p.A2235fs

c.6703_6704fs

1 paper

NM_006015.6

p.A2235delFs

c.6704delC

1 paper

NM_006015.6

p.A2235_L2239delFs

c.6705_6715del11

1 paper

NM_006015.6

p.A2235V

c.6704C>T

3 papers

NM_006015.6

p.R2233Q

c.6698G>A

1 paper

NM_006015.6

p.R2233P

c.6698G>C

1 paper

NM_006015.6

p.R2233L

c.6698G>T