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.G1762V

c.5285G>T

Surrounding Variants

1 paper

NM_152641.4

p.G1762*

c.5284G>T

1 paper

NM_152641.4

p.E1761D

c.5283G>C

1 paper

NM_152641.4

p.E1761D

c.5283G>T

1 paper

NM_152641.4

p.E1761Q

c.5281G>C

1 paper

NM_152641.4

p.E1761fs

c.5281_5282fs

1 paper

NM_152641.4

p.K1760fs

c.5278_5279fs

1 paper

NM_152641.4

p.K1760delFs

c.5279_5280delAA

1 paper

NM_152641.4

p.K1766N

c.5298A>C

1 paper

NM_152641.4

p.K1766N

c.5298A>T

2 papers

NM_152641.4

p.T1757_D1758Splc

c.5272-1G>A

1 paper

NM_152641.4

p.H1767Q

c.5301C>A

1 paper

NM_152641.4

p.H1767Q

c.5301C>G