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

2 papers

NM_152641.4

p.Q894E

c.2680C>G

Surrounding Variants

3 papers

NM_152641.4

p.Q894*

c.2680C>T

1 paper

NM_152641.4

p.I896V

c.2686A>G

1 paper

NM_152641.4

p.I896_L901Fs

c.2688_2703delinsCTGFs

1 paper

NM_152641.4

p.A897fs

c.2689_2690fs

1 paper

NM_152641.4

p.V891fs

c.2671_2672fs

1 paper

NM_152641.4

p.R890insFs

c.2668_2669insG

1 paper

NM_152641.4

p.R890fs

c.2668_2669fs

1 paper

NM_152641.4

p.K899delFs

c.2697delA

2 papers

NM_152641.4

p.S889*

c.2666C>A

2 papers

NM_152641.4

p.S889*

c.2666C>G

1 paper

NM_152641.4

p.S889L

c.2666C>T

2 papers

NM_152641.4

p.K899E

c.2695A>G