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.L212V

c.634C>G

Surrounding Variants

1 paper

NM_002230.4

p.L209L

c.627G>C

2 papers

NM_002230.4

p.R203H

c.608G>A

2 papers

NM_002230.4

p.R203C

c.607C>T

1 paper

NM_002230.4

p.A202insFs

c.605_606insG

1 paper

NM_002230.4

p.A221A

c.663C>A

2 papers

NM_002230.4

p.S225L

c.674C>T

2 papers

NM_002230.4

p.D198N

c.592G>A

1 paper

NM_002230.4

p.S197N

c.590G>A

1 paper

NM_002230.4

p.I228V

c.682A>G

2 papers

NM_002230.4

p.N195K

c.585T>G

2 papers

NM_002230.4

p.N195K

c.585T>A

4 papers

NM_002230.4

p.M193T

c.578T>C