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.E1779del1

c.5335_5336delGAG

Surrounding Variants

1 paper

NM_006015.6

p.E1779K

c.5335G>A

4 papers

NM_006015.6

p.E1779*

c.5335G>T

10 papers

NM_006015.6

p.E1779G

c.5336A>G

1 paper

NM_006015.6

p.E1778K

c.5332G>A

4 papers

NM_006015.6

p.E1778*

c.5332G>T

1 paper

NM_006015.6

p.E1780K

c.5338G>A

2 papers

NM_006015.6

p.E1780fs

c.5338_5339fs

2 papers

NM_006015.6

p.E1780*

c.5338G>T

3 papers

NM_006015.6

p.E1777*

c.5329G>T

1 paper

NM_006015.6

p.E1777fs

c.5329_5330fs

1 paper

NM_006015.6

p.E1776E

c.5328A>G

1 paper

NM_006015.6

p.E1777delFs

c.5329delG