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.G180S

c.538G>A

Surrounding Variants

2 papers

NM_006015.6

p.G180R

c.538G>C

3 papers

NM_006015.6

p.G180fs

c.538_539fs

1 paper

NM_006015.6

p.G180D

c.539G>A

1 paper

NM_006015.6

p.G180A

c.539G>C

1 paper

NM_006015.6

p.G180delFs

c.540delC

1 paper

NM_006015.6

p.G180_A182del0

c.538_546del9

2 papers

NM_006015.6

p.P179H

c.536C>A

4 papers

NM_006015.6

p.P179R

c.536C>G

1 paper

NM_006015.6

p.P179L

c.536C>T

1 paper

NM_006015.6

p.G180G

c.540C>T

1 paper

NM_006015.6

p.L181_A183delFs

c.542_548del7

1 paper

NM_006015.6

p.P179_A182delFs

c.537_546del10