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.S1229*

c.3686C>G

Surrounding Variants

1 paper

NM_152641.4

p.S1229*

c.3686C>A

2 papers

NM_152641.4

p.S1229L

c.3686C>T

1 paper

NM_152641.4

p.S1228L

c.3683C>T

1 paper

NM_152641.4

p.S1228fs

c.3682_3683fs

1 paper

NM_152641.4

p.Q1227Q

c.3681A>G

1 paper

NM_152641.4

p.S1228delFs

c.3682delT

1 paper

NM_152641.4

p.Q1227R

c.3680A>G

2 papers

NM_152641.4

p.Q1227*

c.3679C>T

1 paper

NM_152641.4

p.T1232I

c.3695C>T

1 paper

NM_152641.4

p.G1226E

c.3677G>A

1 paper

NM_152641.4

p.A1233D

c.3698C>A

1 paper

NM_152641.4

p.T1234I

c.3701C>T