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.P1152fs

c.3454_3455fs

Surrounding Variants

1 paper

NM_152641.4

p.P1152S

c.3454C>T

1 paper

NM_152641.4

p.P1152delFs

c.3454delC

1 paper

NM_152641.4

p.G1153C

c.3457G>T

1 paper

NM_152641.4

p.P1154fs

c.3460_3461fs

1 paper

NM_152641.4

p.P1154S

c.3460C>T

1 paper

NM_152641.4

p.Q1149*

c.3445C>T

1 paper

NM_152641.4

p.Q1149fs

c.3445_3446fs

1 paper

NM_152641.4

p.L1148_Q1149insFs

c.3444_3445ins4

1 paper

NM_152641.4

p.I1156F

c.3466A>T

1 paper

NM_152641.4

p.L1148fs

c.3442_3443fs

1 paper

NM_152641.4

p.L1148fs

c.3442_3443fs

1 paper

NM_152641.4

p.N1147S

c.3440A>G