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

5 papers

NM_152641.4

p.Q995*

c.2983C>T

Surrounding Variants

1 paper

NM_152641.4

p.Q995fs

c.2983_2984fs

1 paper

NM_152641.4

p.P994L

c.2981C>T

1 paper

NM_152641.4

p.P994delFs

c.2982delT

1 paper

NM_152641.4

p.S996P

c.2986T>C

1 paper

NM_152641.4

p.S996L

c.2987C>T

1 paper

NM_152641.4

p.T993S

c.2978C>G

1 paper

NM_152641.4

p.T993S

c.2977A>T

2 papers

NM_152641.4

p.Q997*

c.2989C>T

1 paper

NM_152641.4

p.S992F

c.2975C>T

1 paper

NM_152641.4

p.Q997H

c.2991G>C

1 paper

NM_152641.4

p.Q997H

c.2991G>T

2 papers

NM_152641.4

p.G998R

c.2992G>A