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.Q269fs

c.805_806fs

Surrounding Variants

4 papers

NM_006015.6

p.Q269*

c.805C>T

1 paper

NM_006015.6

p.Q269_R270del2

c.805_809del6

1 paper

NM_006015.6

p.R270S

c.808C>A

1 paper

NM_006015.6

p.Q269insFs

c.806_807ins4

1 paper

NM_006015.6

p.Q268E

c.802C>G

15 papers

NM_006015.6

p.Q268*

c.802C>T

1 paper

NM_006015.6

p.R270fs

c.808_809fs

1 paper

NM_006015.6

p.R270H

c.809G>A

1 paper

NM_006015.6

p.R270insFs

c.810dupC

1 paper

NM_006015.6

p.A267delFs

c.800delC

1 paper

NM_006015.6

p.F271L

c.811T>C

1 paper

NM_006015.6

p.F271fs

c.811_812fs