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

1 paper

NM_152641.4

p.A290insFs

c.869_870insT

Surrounding Variants

1 paper

NM_152641.4

p.A290_R294delFs

c.870_880del11

1 paper

NM_152641.4

p.I289V

c.865A>G

1 paper

NM_152641.4

p.I292fs

c.874_875fs

1 paper

NM_152641.4

p.L293delFs

c.877delT

2 papers

NM_152641.4

p.Q288H

c.864G>C

1 paper

NM_152641.4

p.Q288H

c.864G>T

1 paper

NM_152641.4

p.Q288R

c.863A>G

1 paper

NM_152641.4

p.Q288K

c.862C>A

1 paper

NM_152641.4

p.Q288_I289insC

c.862_866ins3

3 papers

NM_152641.4

p.Q288*

c.862C>T

2 papers

NM_152641.4

p.L287I

c.859C>A

1 paper

NM_152641.4

p.L287V

c.859C>G