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

10 papers

NM_152641.4

p.R285Q

c.854G>A

Surrounding Variants

5 papers

NM_152641.4

p.R285W

c.853C>T

1 paper

NM_152641.4

p.R285fs

c.853_854fs

1 paper

NM_152641.4

p.V286L

c.856G>C

1 paper

NM_152641.4

p.V286fs

c.856_857fs

1 paper

NM_152641.4

p.V286L

c.856G>T

1 paper

NM_152641.4

p.V286V

c.858A>T

1 paper

NM_152641.4

p.Q284insFs

c.851dupA

3 papers

NM_152641.4

p.Q284*

c.850C>T

2 papers

NM_152641.4

p.L287I

c.859C>A

1 paper

NM_152641.4

p.L287V

c.859C>G

2 papers

NM_152641.4

p.G283A

c.848G>C

1 paper

NM_152641.4

p.G283R

c.847G>A