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.Q1041fs

c.3121_3122fs

Surrounding Variants

4 papers

NM_152641.4

p.Q1041*

c.3121C>T

2 papers

NM_152641.4

p.V1040A

c.3119T>C

1 paper

NM_152641.4

p.V1040I

c.3118G>A

1 paper

NM_152641.4

p.V1040delFs

c.3120delT

3 papers

NM_152641.4

p.Q1043*

c.3127C>T

1 paper

NM_152641.4

p.Q1039*

c.3115C>T

1 paper

NM_152641.4

p.M1038V

c.3112A>G

2 papers

NM_152641.4

p.Q1044*

c.3130C>T

1 paper

NM_152641.4

p.S1045*

c.3134C>A

1 paper

NM_152641.4

p.S1045S

c.3135G>A

1 paper

NM_152641.4

p.N1046H

c.3136A>C

1 paper

NM_152641.4

p.Q1035R

c.3104A>G