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

15 papers

NM_002230.4

p.S24*

c.71C>A

Surrounding Variants

2 papers

NM_002230.4

p.S24L

c.71C>T

1 paper

NM_002230.4

p.S24P

c.70T>C

1 paper

NM_002230.4

p.Y20_D23delFs

c.58_68del11

1 paper

NM_002230.4

p.D23delFs

c.67delC

1 paper

NM_002230.4

p.S28A

c.82T>G

1 paper

NM_002230.4

p.T19T

c.57A>G

13 papers

NM_002230.4

p.T19I

c.56C>T

1 paper

NM_002230.4

p.Q18H

c.54G>T

1 paper

NM_002230.4

p.Q18H

c.54G>C

2 papers

NM_002230.4

p.A30T

c.88G>A

1 paper

NM_002230.4

p.P35A

c.103C>G

1 paper

NM_002230.4

p.C33_V34del2

c.97_101del6