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

2 papers

NM_006015.6

p.G1282R

c.3844G>C

Surrounding Variants

2 papers

NM_006015.6

p.G1282R

c.3844G>A

1 paper

NM_006015.6

p.G1282fs

c.3844_3845fs

2 papers

NM_006015.6

p.G1282*

c.3844G>T

1 paper

NM_006015.6

p.G1282E

c.3845G>A

2 papers

NM_006015.6

p.Y1281*

c.3843T>A

2 papers

NM_006015.6

p.Y1281*

c.3843T>G

1 paper

NM_006015.6

p.Y1281C

c.3842A>G

1 paper

NM_006015.6

p.Y1281delFs

c.3843delT

1 paper

NM_006015.6

p.G1283fs

c.3847_3848fs

1 paper

NM_006015.6

p.P1284L

c.3851C>T

2 papers

NM_006015.6

p.Y1279*

c.3837T>A

2 papers

NM_006015.6

p.Y1279*

c.3837T>G