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.Q519E

c.1555C>G

Surrounding Variants

1 paper

NM_002230.4

p.P517L

c.1550C>T

1 paper

NM_002230.4

p.A521A

c.1563A>G

1 paper

NM_002230.4

p.A522T

c.1564G>A

1 paper

NM_002230.4

p.H515Y

c.1543C>T

1 paper

NM_002230.4

p.R526C

c.1576C>T

1 paper

NM_002230.4

p.R526H

c.1577G>A

1 paper

NM_002230.4

p.L527I

c.1579C>A

1 paper

NM_002230.4

p.L510L

c.1530G>C

2 papers

NM_002230.4

p.V528I

c.1582G>A

1 paper

NM_002230.4

p.Q529*

c.1585C>T

1 paper

NM_002230.4

p.R506K

c.1517G>A

1 paper

NM_002230.4

p.G503S

c.1507G>A