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.C33_V34del2

c.97_101del6

Surrounding Variants

1 paper

NM_002230.4

p.P35A

c.103C>G

1 paper

NM_002230.4

p.S39insFs

c.116_117insAG

2 papers

NM_002230.4

p.A30T

c.88G>A

1 paper

NM_002230.4

p.K40ins1

c.118_119insGCA

1 paper

NM_002230.4

p.G41S

c.121G>A

1 paper

NM_002230.4

p.S28A

c.82T>G

1 paper

NM_002230.4

p.I42N

c.125T>A

1 paper

NM_002230.4

p.E45A

c.134A>C

2 papers

NM_002230.4

p.S24L

c.71C>T

15 papers

NM_002230.4

p.S24*

c.71C>A

1 paper

NM_002230.4

p.S24P

c.70T>C

1 paper

NM_002230.4

p.Y20_D23delFs

c.58_68del11