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.T1186I

c.3557C>T

Surrounding Variants

1 paper

NM_152641.4

p.V1187fs

c.3559_3560fs

1 paper

NM_152641.4

p.A1185_T1186insFs

c.3555_3558dup4

1 paper

NM_152641.4

p.S1188N

c.3563G>A

1 paper

NM_152641.4

p.P1184T

c.3550C>A

4 papers

NM_152641.4

p.Q1189*

c.3565C>T

1 paper

NM_152641.4

p.A1183V

c.3548C>T

1 paper

NM_152641.4

p.G1190R

c.3568G>A

1 paper

NM_152641.4

p.G1190R

c.3568G>C

1 paper

NM_152641.4

p.G1190fs

c.3568_3569fs

2 papers

NM_152641.4

p.G1190*

c.3568G>T

1 paper

NM_152641.4

p.F1182fs

c.3544_3545fs

2 papers

NM_152641.4

p.S1181R

c.3543T>A