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.T1514I

c.4541C>T

Surrounding Variants

2 papers

NM_152641.4

p.T1514A

c.4540A>G

1 paper

NM_152641.4

p.R1517insFs

c.4549_4550insC

1 paper

NM_152641.4

p.R1517K

c.4550G>A

1 paper

NM_152641.4

p.E1511K

c.4531G>A

3 papers

NM_152641.4

p.E1511*

c.4531G>T

1 paper

NM_152641.4

p.P1518_A1519del2

c.4552_4556del6

1 paper

NM_152641.4

p.E1511_P1518del8

c.4531_4553del24

1 paper

NM_152641.4

p.T1509I

c.4526C>T

1 paper

NM_152641.4

p.E1520*

c.4558G>T

1 paper

NM_152641.4

p.E1520G

c.4559A>G

1 paper

NM_152641.4

p.G1508D

c.4523G>A

1 paper

NM_152641.4

p.G1508S

c.4522G>A