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

2 papers

NM_006015.6

p.Y216H

c.646T>C

Surrounding Variants

1 paper

NM_006015.6

p.Y216_P217insC

c.646_650ins3

1 paper

NM_006015.6

p.Y216F

c.647A>T

1 paper

NM_006015.6

p.P217delFs

c.651delC

4 papers

NM_006015.6

p.Y215*

c.645C>A

3 papers

NM_006015.6

p.Y215*

c.645C>G

3 papers

NM_006015.6

p.Y216*

c.648C>A

3 papers

NM_006015.6

p.Y216*

c.648C>G

1 paper

NM_006015.6

p.S214insFs

c.641_642insT

1 paper

NM_006015.6

p.S214F

c.641C>T

1 paper

NM_006015.6

p.N218fs

c.652_653fs

1 paper

NM_006015.6

p.N218fs

c.652_653fs

1 paper

NM_006015.6

p.S214A

c.640T>G