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.G174delFs

c.522delC

Surrounding Variants

1 paper

NM_006015.6

p.G175delFs

c.524delG

1 paper

NM_006015.6

p.G174S

c.520G>A

1 paper

NM_006015.6

p.G175R

c.523G>A

1 paper

NM_006015.6

p.G175R

c.523G>C

1 paper

NM_006015.6

p.G175fs

c.523_524fs

1 paper

NM_006015.6

p.G175fs

c.523_524fs

1 paper

NM_006015.6

p.H173P

c.518A>C

1 paper

NM_006015.6

p.H173delFs

c.519delT

1 paper

NM_006015.6

p.G175A

c.524G>C

1 paper

NM_006015.6

p.H173_G174ins16

c.517_521ins48

1 paper

NM_006015.6

p.H173Y

c.517C>T

1 paper

NM_006015.6

p.H173delFs

c.517delC