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.G85fs

c.253_254fs

Surrounding Variants

2 papers

NM_006015.6

p.G85R

c.253G>C

1 paper

NM_006015.6

p.G85C

c.253G>T

1 paper

NM_006015.6

p.G85fs

c.253_254fs

1 paper

NM_006015.6

p.G85D

c.254G>A

2 papers

NM_006015.6

p.G84A

c.251G>C

1 paper

NM_006015.6

p.G84V

c.251G>T

1 paper

NM_006015.6

p.G84S

c.250G>A

1 paper

NM_006015.6

p.G86S

c.256G>A

1 paper

NM_006015.6

p.G84R

c.250G>C

1 paper

NM_006015.6

p.G87_G93ins2

c.261_278dup18

1 paper

NM_006015.6

p.G84fs

c.250_251fs

4 papers

NM_006015.6

p.G89_D99delFs

c.267_295del29