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.V603M

c.1807G>A

Surrounding Variants

8 papers

NM_002230.4

p.V603L

c.1807G>T

7 papers

NM_002230.4

p.V603L

c.1807G>C

2 papers

NM_002230.4

p.R602H

c.1805G>A

1 paper

NM_002230.4

p.I600N

c.1799T>A

1 paper

NM_002230.4

p.N599delFs

c.1797delG

2 papers

NM_002230.4

p.S596L

c.1787C>T

1 paper

NM_002230.4

p.Q591_L592Splc

c.1774-1G>C

1 paper

NM_002230.4

p.D614delFs

c.1841delT

1 paper

NM_002230.4

p.A618T

c.1852G>A

1 paper

NM_002230.4

p.Q591_L592Splc

c.1774-13C>T

2 papers

NM_002230.4

p.I621T

c.1862T>C

1 paper

NM_002230.4

p.G625W

c.1873G>T