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.K1815N

c.5445G>C

Surrounding Variants

1 paper

NM_006015.6

p.K1815K

c.5445G>A

1 paper

NM_006015.6

p.K1815N

c.5445G>T

1 paper

NM_006015.6

p.I1816fs

c.5446_5447fs

2 papers

NM_006015.6

p.K1815R

c.5444A>G

2 papers

NM_006015.6

p.K1815delFs

c.5445delG

1 paper

NM_006015.6

p.I1816fs

c.5446_5447fs

1 paper

NM_006015.6

p.I1816delFs

c.5448delC

2 papers

NM_006015.6

p.I1816M

c.5448C>G

1 paper

NM_006015.6

p.V1817delFs

c.5449delG

5 papers

NM_006015.6

p.V1817I

c.5449G>A

1 paper

NM_006015.6

p.V1817L

c.5449G>C

1 paper

NM_006015.6

p.V1817fs

c.5449_5450fs