Varaico: Literature-Extracted Genetic Variants

JUP

400 papers

RefSeq Summary

This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes w...

Pfam Domains

Armaa 215–255UCSCArmadillo/beta-catenin-like repeat

Armaa 341–381UCSCArmadillo/beta-catenin-like repeat

Armaa 573–613UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

junction plakoglobin

HGNC Previous Symbol

CTNNG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002230.4

p.D659G

c.1976A>G

Surrounding Variants

2 papers

NM_002230.4

p.R661Q

c.1982G>A

1 paper

NM_002230.4

p.K656E

c.1966A>G

1 paper

NM_002230.4

p.R663C

c.1987C>T

2 papers

NM_002230.4

p.S665A

c.1993T>G

1 paper

NM_002230.4

p.R651C

c.1951C>T

1 paper

NM_002230.4

p.V648F

c.1942G>T

14 papers

NM_002230.4

p.V648I

c.1942G>A

1 paper

NM_002230.4

p.S671F

c.2012C>T

1 paper

NM_002230.4

p.A647D

c.1940C>A

2 papers

NM_002230.4

p.S671delFs

c.2013delG

1 paper

NM_002230.4

p.H675Y

c.2023C>T

1 paper

NM_002230.4

p.T643I

c.1928C>T