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.V128E

c.383T>A

Surrounding Variants

1 paper

NM_002230.4

p.I131L

c.391A>C

2 papers

NM_002230.4

p.S125L

c.374C>T

3 papers

NM_002230.4

p.I131del1

c.391_392delGAT

1 paper

NM_002230.4

p.D135E

c.405C>G

1 paper

NM_002230.4

p.D135E

c.405C>A

3 papers

NM_002230.4

p.D136N

c.406G>A

5 papers

NM_002230.4

p.E138K

c.412G>A

1 paper

NM_002230.4

p.E118_P119insGCA

c.352_356ins9

2 papers

NM_002230.4

p.A140V

c.419C>T

2 papers

NM_002230.4

p.R115Q

c.344G>A

8 papers

NM_002230.4

p.R142H

c.425G>A

9 papers

NM_002230.4

p.A143T

c.427G>A