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.G82R

c.244G>C

Surrounding Variants

2 papers

NM_006015.6

p.G82S

c.244G>A

1 paper

NM_006015.6

p.G82fs

c.244_245fs

2 papers

NM_006015.6

p.G82D

c.245G>A

1 paper

NM_006015.6

p.G82A

c.245G>C

1 paper

NM_006015.6

p.G81E

c.242G>A

1 paper

NM_006015.6

p.G81A

c.242G>C

3 papers

NM_006015.6

p.G81V

c.242G>T

1 paper

NM_006015.6

p.G82G

c.246T>G

1 paper

NM_006015.6

p.G82_G83ins1

c.246_247insGGC

1 paper

NM_006015.6

p.G82_G83ins2

c.246_247ins6

3 papers

NM_006015.6

p.G82_G83ins6

c.246_247ins18

7 papers

NM_006015.6

p.G86_G87del1

c.258_260delCGG