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.D1315E

c.3945C>A

Surrounding Variants

1 paper

NM_006015.6

p.D1315E

c.3945C>G

3 papers

NM_006015.6

p.S1316A

c.3946T>G

1 paper

NM_006015.6

p.S1316fs

c.3946_3947fs

3 papers

NM_006015.6

p.S1316*

c.3947C>A

1 paper

NM_006015.6

p.S1316insFs

c.3948dupG

2 papers

NM_006015.6

p.S1316L

c.3947C>T

2 papers

NM_006015.6

p.S1316delFs

c.3948delG

1 paper

NM_006015.6

p.G1317_S1320delFs

c.3949_3958del10

1 paper

NM_006015.6

p.G1317fs

c.3949_3950fs

1 paper

NM_006015.6

p.G1317fs

c.3949_3950fs

1 paper

NM_006015.6

p.P1314fs

c.3940_3941fs

1 paper

NM_006015.6

p.N1313K

c.3939C>A