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.L571P

c.1712T>C

Surrounding Variants

1 paper

NM_152641.4

p.L571_R572del1

c.1713_1715delTAG

1 paper

NM_152641.4

p.L571F

c.1711C>T

1 paper

NM_152641.4

p.R572*

c.1714A>T

1 paper

NM_152641.4

p.R572K

c.1715G>A

1 paper

NM_152641.4

p.C570delFs

c.1710delT

1 paper

NM_152641.4

p.C570fs

c.1708_1709fs

1 paper

NM_152641.4

p.C570delFs

c.1708delT

1 paper

NM_152641.4

p.R572Splc

c.1715+2T>A

1 paper

NM_152641.4

p.K569I

c.1706A>T

1 paper

NM_152641.4

p.K569fs

c.1705_1706fs

1 paper

NM_152641.4

p.K569*

c.1705A>T

1 paper

NM_152641.4

p.K569fs

c.1705_1706fs