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.L2279P

c.6836T>C

Surrounding Variants

1 paper

NM_006015.6

p.L2279fs

c.6835_6836fs

1 paper

NM_006015.6

p.L2279fs

c.6835_6836fs

1 paper

NM_006015.6

p.L2281delFs

c.6842delT

1 paper

NM_006015.6

p.F2280fs

c.6838_6839fs

1 paper

NM_006015.6

p.V2278fs

c.6832_6833fs

1 paper

NM_006015.6

p.V2278delFs

c.6832delG

1 paper

NM_006015.6

p.L2281fs

c.6841_6842fs

1 paper

NM_006015.6

p.D2277G

c.6830A>G

1 paper

NM_006015.6

p.L2281*

c.6842T>A

3 papers

NM_006015.6

p.L2281F

c.6843G>C

3 papers

NM_006015.6

p.L2281F

c.6843G>T

1 paper

NM_006015.6

p.D2277Y

c.6829G>T