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.S1435P

c.4303T>C

Surrounding Variants

2 papers

NM_152641.4

p.S1435*

c.4304C>A

2 papers

NM_152641.4

p.S1435*

c.4304C>G

1 paper

NM_152641.4

p.S1435L

c.4304C>T

1 paper

NM_152641.4

p.A1434_S1435delins

c.4302_4303delinsCC

1 paper

NM_152641.4

p.A1434D

c.4301C>A

10 papers

NM_152641.4

p.A1434S

c.4300G>T

1 paper

NM_152641.4

p.N1436S

c.4307A>G

1 paper

NM_152641.4

p.E1433K

c.4297G>A

1 paper

NM_152641.4

p.E1433fs

c.4297_4298fs

1 paper

NM_152641.4

p.A1437V

c.4310C>T

2 papers

NM_152641.4

p.I1431M

c.4293A>G

1 paper

NM_152641.4

p.T1439insFs

c.4315_4316insAC