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.D130V

c.389A>T

Surrounding Variants

1 paper

NM_006015.6

p.D130fs

c.388_389fs

1 paper

NM_006015.6

p.D130fs

c.388_389fs

1 paper

NM_006015.6

p.D130E

c.390T>A

1 paper

NM_006015.6

p.D130E

c.390T>G

1 paper

NM_006015.6

p.V132delFs

c.394delG

3 papers

NM_006015.6

p.G131R

c.391G>A

1 paper

NM_006015.6

p.G131R

c.391G>C

1 paper

NM_006015.6

p.S129N

c.386G>A

1 paper

NM_006015.6

p.G131E

c.392G>A

1 paper

NM_006015.6

p.G131A

c.392G>C

1 paper

NM_006015.6

p.S129_D130insFs

c.387_388insC

1 paper

NM_006015.6

p.S129G

c.385A>G