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.L150R

c.449T>G

Surrounding Variants

1 paper

NM_002230.4

p.T148_L151del4

c.442_452del12

1 paper

NM_002230.4

p.D153N

c.457G>A

2 papers

NM_002230.4

p.D153V

c.458A>T

1 paper

NM_002230.4

p.E154K

c.460G>A

4 papers

NM_002230.4

p.E146K

c.436G>A

1 paper

NM_002230.4

p.P145R

c.434C>G

12 papers

NM_002230.4

p.P156P

c.468G>A

9 papers

NM_002230.4

p.A143T

c.427G>A

8 papers

NM_002230.4

p.R142H

c.425G>A

2 papers

NM_002230.4

p.A140V

c.419C>T

5 papers

NM_002230.4

p.E138K

c.412G>A

3 papers

NM_002230.4

p.D136N

c.406G>A