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

22 papers

NM_152641.4

p.S297F

c.890C>T

Surrounding Variants

2 papers

NM_152641.4

p.S297P

c.889T>C

1 paper

NM_152641.4

p.S297delFs

c.890delC

1 paper

NM_152641.4

p.L296fs

c.886_887fs

1 paper

NM_152641.4

p.E299K

c.895G>A

1 paper

NM_152641.4

p.L296_S297delFs

c.886_890del5

1 paper

NM_152641.4

p.E299delins

c.896_897delinsGT

1 paper

NM_152641.4

p.E300K

c.898G>A

1 paper

NM_152641.4

p.E300*

c.898G>T

2 papers

NM_152641.4

p.R294K

c.881G>A

1 paper

NM_152641.4

p.R294T

c.881G>C

1 paper

NM_152641.4

p.R294I

c.881G>T

1 paper

NM_152641.4

p.R294*

c.880A>T