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.G123C

c.367G>T

Surrounding Variants

1 paper

NM_006015.6

p.G123S

c.367G>A

2 papers

NM_006015.6

p.G123R

c.367G>C

2 papers

NM_006015.6

p.G123D

c.368G>A

1 paper

NM_006015.6

p.G123A

c.368G>C

1 paper

NM_006015.6

p.G125_G127ins1

c.375_380dup6

1 paper

NM_006015.6

p.G122A

c.365G>C

1 paper

NM_006015.6

p.G122S

c.364G>A

1 paper

NM_006015.6

p.G124S

c.370G>A

1 paper

NM_006015.6

p.G124R

c.370G>C

1 paper

NM_006015.6

p.G122fs

c.364_365fs

1 paper

NM_006015.6

p.G122C

c.364G>T

1 paper

NM_006015.6

p.G124_G125ins0

c.372_374dupCGG