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.Q1221E

c.3661C>G

Surrounding Variants

1 paper

NM_152641.4

p.Q1221*

c.3661C>T

1 paper

NM_152641.4

p.T1220I

c.3659C>T

1 paper

NM_152641.4

p.A1219fs

c.3655_3656fs

1 paper

NM_152641.4

p.S1223F

c.3668C>T

1 paper

NM_152641.4

p.P1218insFs

c.3654dupA

1 paper

NM_152641.4

p.P1218L

c.3653C>T

1 paper

NM_152641.4

p.L1217F

c.3649C>T

2 papers

NM_152641.4

p.T1216M

c.3647C>T

1 paper

NM_152641.4

p.T1216fs

c.3646_3647fs

1 paper

NM_152641.4

p.G1226E

c.3677G>A

2 papers

NM_152641.4

p.Q1215*

c.3643C>T

2 papers

NM_152641.4

p.Q1227*

c.3679C>T