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.G206S

c.616G>A

Surrounding Variants

2 papers

NM_006015.6

p.G206C

c.616G>T

1 paper

NM_006015.6

p.G206_F207insFs

c.618_619dupCT

2 papers

NM_006015.6

p.H205R

c.614A>G

1 paper

NM_006015.6

p.F207fs

c.619_620fs

1 paper

NM_006015.6

p.D204G

c.611A>G

1 paper

NM_006015.6

p.P208T

c.622C>A

5 papers

NM_006015.6

p.P208S

c.622C>T

1 paper

NM_006015.6

p.D204fs

c.610_611fs

1 paper

NM_006015.6

p.H203Q

c.609C>A

1 paper

NM_006015.6

p.H203Q

c.609C>G

1 paper

NM_006015.6

p.P208L

c.623C>T

1 paper

NM_006015.6

p.P208_Y215del0

c.624_644del21