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.R1745S

c.5235G>T

Surrounding Variants

1 paper

NM_152641.4

p.R1745S

c.5235G>C

1 paper

NM_152641.4

p.R1745fs

c.5233_5234fs

1 paper

NM_152641.4

p.A1743D

c.5228C>A

1 paper

NM_152641.4

p.A1743_L1744insFs

c.5229_5232dup4

1 paper

NM_152641.4

p.S1748*

c.5243C>A

1 paper

NM_152641.4

p.S1748*

c.5243C>G

1 paper

NM_152641.4

p.A1743T

c.5227G>A

1 paper

NM_152641.4

p.R1749*

c.5245A>T

1 paper

NM_152641.4

p.M1742fs

c.5224_5225fs

1 paper

NM_152641.4

p.L1741I

c.5221C>A

1 paper

NM_152641.4

p.L1741insFs

c.5223dupT

1 paper

NM_152641.4

p.L1751F

c.5251C>T