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.R1414fs

c.4240_4241fs

Surrounding Variants

1 paper

NM_152641.4

p.R1414fs

c.4240_4241fs

1 paper

NM_152641.4

p.R1414*

c.4240A>T

1 paper

NM_152641.4

p.R1414I

c.4241G>T

1 paper

NM_152641.4

p.I1415V

c.4243A>G

1 paper

NM_152641.4

p.R1414delFs

c.4240delA

1 paper

NM_152641.4

p.L1412V

c.4234C>G

1 paper

NM_152641.4

p.Q1411K

c.4231C>A

1 paper

NM_152641.4

p.Q1411fs

c.4231_4232fs

3 papers

NM_152641.4

p.Q1411*

c.4231C>T

1 paper

NM_152641.4

p.G1409D

c.4226G>A

1 paper

NM_152641.4

p.K1408N

c.4224A>C

2 papers

NM_152641.4

p.K1408N

c.4224A>T