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

2 papers

NM_002230.4

p.I621T

c.1862T>C

Surrounding Variants

1 paper

NM_002230.4

p.A618T

c.1852G>A

1 paper

NM_002230.4

p.G625W

c.1873G>T

1 paper

NM_002230.4

p.A628T

c.1882G>A

1 paper

NM_002230.4

p.D614delFs

c.1841delT

1 paper

NM_002230.4

p.E632K

c.1894G>A

1 paper

NM_002230.4

p.S636F

c.1907C>T

2 papers

NM_002230.4

p.R637C

c.1909C>T

1 paper

NM_002230.4

p.R637S

c.1909C>A

1 paper

NM_002230.4

p.R637L

c.1910G>T

1 paper

NM_002230.4

p.R637H

c.1910G>A

1 paper

NM_002230.4

p.E639K

c.1915G>A

8 papers

NM_002230.4

p.V603L

c.1807G>T