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.G155_S157delFs

c.465_471del7

Surrounding Variants

1 paper

NM_006015.6

p.G155V

c.464G>T

1 paper

NM_006015.6

p.G155delFs

c.465delC

1 paper

NM_006015.6

p.G155_P158delFs

c.465_474del10

1 paper

NM_006015.6

p.R156fs

c.466_467fs

1 paper

NM_006015.6

p.Y154S

c.461A>C

1 paper

NM_006015.6

p.Y154delFs

c.462delC

1 paper

NM_006015.6

p.R156Q

c.467G>A

1 paper

NM_006015.6

p.Y154H

c.460T>C

1 paper

NM_006015.6

p.Y154fs

c.460_461fs

1 paper

NM_006015.6

p.S157fs

c.469_470fs

1 paper

NM_006015.6

p.S157C

c.469A>T

1 paper

NM_006015.6

p.S157fs

c.469_470fs