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

6 papers

NM_006015.6

p.G189_G190del1

c.567_569delCGG

Surrounding Variants

2 papers

NM_006015.6

p.S186fs

c.556_557fs

1 paper

NM_006015.6

p.S186_G187insC

c.556_560ins3

1 paper

NM_006015.6

p.S186R

c.556A>C

1 paper

NM_006015.6

p.S186G

c.556A>G

1 paper

NM_006015.6

p.S186fs

c.556_557fs

1 paper

NM_006015.6

p.Q185H

c.555G>C

1 paper

NM_006015.6

p.Q185H

c.555G>T

1 paper

NM_006015.6

p.S186R

c.558C>A

1 paper

NM_006015.6

p.S186R

c.558C>G

1 paper

NM_006015.6

p.Q185insFs

c.554dupA

7 papers

NM_006015.6

p.Q185*

c.553C>T

1 paper

NM_006015.6

p.G187S

c.559G>A