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.E533*

c.1597G>T

Surrounding Variants

1 paper

NM_152641.4

p.H531R

c.1592A>G

1 paper

NM_152641.4

p.N535K

c.1605T>A

1 paper

NM_152641.4

p.N535K

c.1605T>G

1 paper

NM_152641.4

p.P536T

c.1606C>A

1 paper

NM_152641.4

p.P536fs

c.1606_1607fs

1 paper

NM_152641.4

p.P536L

c.1607C>T

1 paper

NM_152641.4

p.D537delFs

c.1609delG

1 paper

NM_152641.4

p.D537fs

c.1609_1610fs

1 paper

NM_152641.4

p.D537V

c.1610A>T

1 paper

NM_152641.4

p.C538F

c.1613G>T

1 paper

NM_152641.4

p.W527Splc

c.1581-1G>A

1 paper

NM_152641.4

p.W527Splc

c.1581-1G>C