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

3 papers

NM_006015.6

p.Y195*

c.585C>G

Surrounding Variants

3 papers

NM_006015.6

p.Y195*

c.585C>A

1 paper

NM_006015.6

p.G197delFs

c.591delG

1 paper

NM_006015.6

p.Y195fs

c.583_584fs

1 paper

NM_006015.6

p.Y195delFs

c.583delT

4 papers

NM_006015.6

p.P194L

c.581C>T

1 paper

NM_006015.6

p.G197fs

c.589_590fs

1 paper

NM_006015.6

p.E193D

c.579G>C

1 paper

NM_006015.6

p.E193D

c.579G>T

2 papers

NM_006015.6

p.Q199delFs

c.595delC

1 paper

NM_006015.6

p.P194del1

c.580_582delCCC

3 papers

NM_006015.6

p.P198S

c.592C>T

1 paper

NM_006015.6

p.Q199fs

c.595_596fs