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.V1214A

c.3641T>C

Surrounding Variants

2 papers

NM_152641.4

p.Q1215*

c.3643C>T

1 paper

NM_152641.4

p.P1213Q

c.3638C>A

1 paper

NM_152641.4

p.P1213delins

c.3638_3639delinsAG

1 paper

NM_152641.4

p.P1213fs

c.3637_3638fs

1 paper

NM_152641.4

p.T1216fs

c.3646_3647fs

2 papers

NM_152641.4

p.P1213delFs

c.3638delC

2 papers

NM_152641.4

p.T1216M

c.3647C>T

1 paper

NM_152641.4

p.L1212R

c.3635T>G

1 paper

NM_152641.4

p.L1212fs

c.3634_3635fs

1 paper

NM_152641.4

p.L1212F

c.3634C>T

1 paper

NM_152641.4

p.L1212delFs

c.3635delT

1 paper

NM_152641.4

p.L1217F

c.3649C>T