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.S885I

c.2654G>T

Surrounding Variants

2 papers

NM_152641.4

p.S885N

c.2654G>A

1 paper

NM_152641.4

p.P886_R890del5

c.2656_2669del15

2 papers

NM_152641.4

p.P886L

c.2657C>T

1 paper

NM_152641.4

p.P884fs

c.2650_2651fs

1 paper

NM_152641.4

p.V883delFs

c.2649delC

1 paper

NM_152641.4

p.Q887_A888delins

c.2661_2662delinsGC

3 papers

NM_152641.4

p.V883fs

c.2647_2648fs

1 paper

NM_152641.4

p.A888T

c.2662G>A

1 paper

NM_152641.4

p.A888P

c.2662G>C

1 paper

NM_152641.4

p.A888G

c.2663C>G

1 paper

NM_152641.4

p.A888V

c.2663C>T

4 papers

NM_152641.4

p.G882insFs

c.2645_2646insCT