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.L306_A307Fs

c.918_919delinsTFs

Surrounding Variants

2 papers

NM_152641.4

p.A307V

c.920C>T

1 paper

NM_152641.4

p.L306fs

c.916_917fs

1 paper

NM_152641.4

p.L305fs

c.913_914fs

1 paper

NM_152641.4

p.K304R

c.911A>G

1 paper

NM_152641.4

p.N309K

c.927T>A

3 papers

NM_152641.4

p.R310C

c.928C>T

4 papers

NM_152641.4

p.R310H

c.929G>A

2 papers

NM_152641.4

p.V303I

c.907G>A

1 paper

NM_152641.4

p.V303fs

c.907_908fs

1 paper

NM_152641.4

p.N302S

c.905A>G

1 paper

NM_152641.4

p.T311A

c.931A>G

1 paper

NM_152641.4

p.T311I

c.932C>T