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.P710H

c.2129C>A

Surrounding Variants

3 papers

NM_152641.4

p.P710S

c.2128C>T

1 paper

NM_152641.4

p.P710P

c.2130T>G

1 paper

NM_152641.4

p.I709fs

c.2125_2126fs

1 paper

NM_152641.4

p.C711*

c.2133T>A

1 paper

NM_152641.4

p.E712*

c.2134G>T

1 paper

NM_152641.4

p.P708L

c.2123C>T

1 paper

NM_152641.4

p.I709delFs

c.2125delA

1 paper

NM_152641.4

p.P708S

c.2122C>T

1 paper

NM_152641.4

p.V713I

c.2137G>A

1 paper

NM_152641.4

p.V714I

c.2140G>A

1 paper

NM_152641.4

p.S705N

c.2114G>A

2 papers

NM_152641.4

p.S705delFs

c.2114delG