Varaico: Literature-Extracted Genetic Variants

ARID2

949 papers

RefSeq Summary

This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulati...

Pfam Domains

ARIDaa 15–101UCSCARID/BRIGHT DNA binding domain

RFX_DNA_bindingaa 521–603UCSCRFX DNA-binding domain

Gene Aliases

HGNC Name

AT-rich interaction domain 2

HGNC Alias Symbols

KIAA1557; DKFZp686G052; FLJ30619; BAF200; SMARCF3; ZIPZAP; p200

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_152641.4

p.A810P

c.2428G>C

Surrounding Variants

1 paper

NM_152641.4

p.A810T

c.2428G>A

1 paper

NM_152641.4

p.N807S

c.2420A>G

1 paper

NM_152641.4

p.S813fs

c.2437_2438fs

1 paper

NM_152641.4

p.T814delFs

c.2441_2442delCA

1 paper

NM_152641.4

p.T814A

c.2440A>G

1 paper

NM_152641.4

p.T814fs

c.2440_2441fs

1 paper

NM_152641.4

p.Q806K

c.2416C>A

2 papers

NM_152641.4

p.Q806*

c.2416C>T

1 paper

NM_152641.4

p.T814I

c.2441C>T

1 paper

NM_152641.4

p.R804fs

c.2410_2411fs

1 paper

NM_152641.4

p.R804insFs

c.2410dupA

1 paper

NM_152641.4

p.G803D

c.2408G>A