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.E12delFs

c.35_36delAG

Surrounding Variants

2 papers

NM_152641.4

p.E12Q

c.34G>C

1 paper

NM_152641.4

p.E12*

c.34G>T

1 paper

NM_152641.4

p.D11fs

c.31_32fs

1 paper

NM_152641.4

p.D11Y

c.31G>T

3 papers

NM_152641.4

p.P10L

c.29C>T

1 paper

NM_152641.4

p.R13W

c.37C>T

1 paper

NM_152641.4

p.D11delFs

c.31delG

9 papers

NM_152641.4

p.P10T

c.28C>A

1 paper

NM_152641.4

p.R13Q

c.38G>A

1 paper

NM_152641.4

p.R14R

c.40A>C

1 paper

NM_152641.4

p.R14fs

c.40_41fs

1 paper

NM_152641.4

p.P9S

c.25C>T