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.A1789Fs

c.5365_5367delinsACCTFs

Surrounding Variants

1 paper

NM_006015.6

p.A1789T

c.5365G>A

1 paper

NM_006015.6

p.A1789fs

c.5365_5366fs

1 paper

NM_006015.6

p.I1788M

c.5364A>G

1 paper

NM_006015.6

p.S1791delFs

c.5371delT

1 paper

NM_006015.6

p.F1790_S1791delFs

c.5370_5371delTT

1 paper

NM_006015.6

p.I1788fs

c.5362_5363fs

1 paper

NM_006015.6

p.E1787K

c.5359G>A

1 paper

NM_006015.6

p.E1787fs

c.5359_5360fs

1 paper

NM_006015.6

p.E1787_I1788delFs

c.5360_5363del4

1 paper

NM_006015.6

p.S1791fs

c.5371_5372fs

3 papers

NM_006015.6

p.S1791fs

c.5371_5372fs

11 papers

NM_006015.6

p.S1791*

c.5372C>A