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.G92_G95delFs

c.275_285del11

Surrounding Variants

2 papers

NM_006015.6

p.G92S

c.274G>A

1 paper

NM_006015.6

p.G92_G93insT

c.274_278ins3

2 papers

NM_006015.6

p.G95_P109delFs

c.283_326del44

3 papers

NM_006015.6

p.G92D

c.275G>A

1 paper

NM_006015.6

p.G92A

c.275G>C

2 papers

NM_006015.6

p.G92V

c.275G>T

1 paper

NM_006015.6

p.G92G

c.276C>A

1 paper

NM_006015.6

p.G92G

c.276C>T

2 papers

NM_006015.6

p.G93R

c.277G>A

2 papers

NM_006015.6

p.G93R

c.277G>C

1 paper

NM_006015.6

p.S90R

c.270C>A

1 paper

NM_006015.6

p.S90R

c.270C>G