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.S722F

c.2165C>T

Surrounding Variants

1 paper

NM_152641.4

p.S722_P724del3

c.2164_2171del9

1 paper

NM_152641.4

p.N721D

c.2161A>G

4 papers

NM_152641.4

p.Q720*

c.2158C>T

3 papers

NM_152641.4

p.Q725*

c.2173C>T

1 paper

NM_152641.4

p.T726I

c.2177C>T

1 paper

NM_152641.4

p.V718F

c.2152G>T

2 papers

NM_152641.4

p.G727R

c.2179G>A

2 papers

NM_152641.4

p.G727R

c.2179G>C

1 paper

NM_152641.4

p.G727A

c.2180G>C

1 paper

NM_152641.4

p.P729_V744del16

c.2185_2231del48

1 paper

NM_152641.4

p.P729L

c.2186C>T

1 paper

NM_152641.4

p.V730A

c.2189T>C