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.G86D

c.257G>A

Surrounding Variants

1 paper

NM_006015.6

p.G86insFs

c.257_258insTA

1 paper

NM_006015.6

p.G86_P94del0

c.258_281del24

1 paper

NM_006015.6

p.G86G

c.258C>A

1 paper

NM_006015.6

p.G87delFs

c.259_260delGG

7 papers

NM_006015.6

p.G87del1

c.259_260delGGA

1 paper

NM_006015.6

p.G86S

c.256G>A

4 papers

NM_006015.6

p.G89_D99delFs

c.267_295del29

1 paper

NM_006015.6

p.G87R

c.259G>A

2 papers

NM_006015.6

p.G87R

c.259G>C

1 paper

NM_006015.6

p.G87fs

c.259_260fs

2 papers

NM_006015.6

p.G87*

c.259G>T

1 paper

NM_006015.6

p.G85D

c.254G>A