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.L295P

c.884T>C

Surrounding Variants

2 papers

NM_002230.4

p.G298S

c.892G>A

1 paper

NM_002230.4

p.T289T

c.867C>T

10 papers

NM_002230.4

p.E301G

c.902A>G

1 paper

NM_002230.4

p.E301del1

c.901_903delCTC

3 papers

NM_002230.4

p.K303_L304Splc

c.909+6C>T

1 paper

NM_002230.4

p.K283N

c.849G>T

1 paper

NM_002230.4

p.K283N

c.849G>C

1 paper

NM_002230.4

p.V274A

c.821T>C

1 paper

NM_002230.4

p.L270Q

c.809T>A

1 paper

NM_002230.4

p.L266L

c.796C>T

6 papers

NM_002230.4

p.R265H

c.794G>A

1 paper

NM_002230.4

p.R265S

c.793C>A