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

2 papers

NM_152641.4

p.E1260*

c.3778G>T

Surrounding Variants

1 paper

NM_152641.4

p.E1260G

c.3779A>G

1 paper

NM_152641.4

p.H1259Q

c.3777T>A

1 paper

NM_152641.4

p.H1259Q

c.3777T>G

1 paper

NM_152641.4

p.R1261H

c.3782G>A

1 paper

NM_152641.4

p.V1258ins1

c.3773_3774insACA

1 paper

NM_152641.4

p.K1262E

c.3784A>G

1 paper

NM_152641.4

p.V1258fs

c.3772_3773fs

1 paper

NM_152641.4

p.V1258delFs

c.3772delG

1 paper

NM_152641.4

p.H1257insFs

c.3771dupT

3 papers

NM_152641.4

p.E1264*

c.3790G>T

1 paper

NM_152641.4

p.G1255D

c.3764G>A

1 paper

NM_152641.4

p.G1255S

c.3763G>A