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

1–12 of 332 variants

17 papers

NM_002230.4

p.M697L

c.2089A>T

15 papers

NM_002230.4

p.S24*

c.71C>A

15 papers

NM_002230.4

p.M697L

c.2089A>C

14 papers

NM_002230.4

p.V648I

c.1942G>A

13 papers

NM_002230.4

p.T19I

c.56C>T

12 papers

NM_002230.4

p.P156P

c.468G>A

10 papers

NM_002230.4

p.E301G

c.902A>G

10 papers

NM_002230.4

p.Q539*

c.1615C>T

9 papers

NM_002230.4

p.A143T

c.427G>A

8 papers

NM_002230.4

p.R142H

c.425G>A

8 papers

NM_002230.4

p.V159L

c.475G>T

8 papers

NM_002230.4

p.V603L

c.1807G>T