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

3 papers

NM_006015.6

p.A2237V

c.6710C>T

Surrounding Variants

1 paper

NM_006015.6

p.A2237insFs

c.6710_6711insT

4 papers

NM_006015.6

p.A2237T

c.6709G>A

2 papers

NM_006015.6

p.A2237P

c.6709G>C

1 paper

NM_006015.6

p.A2237insFs

c.6709_6710insC

1 paper

NM_006015.6

p.A2237fs

c.6709_6710fs

1 paper

NM_006015.6

p.L2238fs

c.6712_6713fs

1 paper

NM_006015.6

p.R2236R

c.6708C>T

1 paper

NM_006015.6

p.L2238fs

c.6712_6713fs

2 papers

NM_006015.6

p.R2236H

c.6707G>A

2 papers

NM_006015.6

p.R2236P

c.6707G>C

1 paper

NM_006015.6

p.R2236delins

c.6707_6708delinsAA

1 paper

NM_006015.6

p.R2236S

c.6706C>A