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.E45A

c.134A>C

Surrounding Variants

1 paper

NM_002230.4

p.I42N

c.125T>A

1 paper

NM_002230.4

p.G41S

c.121G>A

1 paper

NM_002230.4

p.K40ins1

c.118_119insGCA

1 paper

NM_002230.4

p.R51L

c.152G>T

1 paper

NM_002230.4

p.S39insFs

c.116_117insAG

1 paper

NM_002230.4

p.G50_R51delFs

c.148_151del4

1 paper

NM_002230.4

p.P35A

c.103C>G

1 paper

NM_002230.4

p.C33_V34del2

c.97_101del6

1 paper

NM_002230.4

p.K57R

c.170A>G

1 paper

NM_002230.4

p.T59fs

c.175_176fs

1 paper

NM_002230.4

p.T59insFs

c.175dupA

2 papers

NM_002230.4

p.T60A

c.178A>G