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.Q1330R

c.3989A>G

Surrounding Variants

3 papers

NM_006015.6

p.Q1330*

c.3988C>T

3 papers

NM_006015.6

p.Q1331*

c.3991C>T

4 papers

NM_006015.6

p.Q1329*

c.3985C>T

5 papers

NM_006015.6

p.Q1332*

c.3994C>T

1 paper

NM_006015.6

p.Q1328H

c.3984G>C

1 paper

NM_006015.6

p.Q1328H

c.3984G>T

1 paper

NM_006015.6

p.Q1332insFs

c.3996dupG

2 papers

NM_006015.6

p.Q1328*

c.3982C>T

3 papers

NM_006015.6

p.Q1333_Q1334del2

c.3997_4001del6

3 papers

NM_006015.6

p.Q1333*

c.3997C>T

1 paper

NM_006015.6

p.Q1333fs

c.3997_3998fs

1 paper

NM_006015.6

p.Q1327H

c.3981G>C