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.L2011insFs

c.6032dupT

Surrounding Variants

2 papers

NM_006015.6

p.L2011fs

c.6031_6032fs

2 papers

NM_006015.6

p.L2011R

c.6032T>G

1 paper

NM_006015.6

p.I2010fs

c.6028_6029fs

2 papers

NM_006015.6

p.G2012R

c.6034G>C

1 paper

NM_006015.6

p.G2012fs

c.6034_6035fs

1 paper

NM_006015.6

p.G2012_K2013Fs

c.6034_6038delinsCFs

1 paper

NM_006015.6

p.G2012_L2014delFs

c.6036_6042del7

1 paper

NM_006015.6

p.L2009_I2010Fs

c.6027_6028delinsGFs

2 papers

NM_006015.6

p.G2012D

c.6035G>A

1 paper

NM_006015.6

p.G2012G

c.6036C>A

1 paper

NM_006015.6

p.L2009fs

c.6025_6026fs

1 paper

NM_006015.6

p.L2009V

c.6025C>G