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.V85_R86delFs

c.253_256del4

Surrounding Variants

1 paper

NM_002230.4

p.R86Q

c.257G>A

3 papers

NM_002230.4

p.R84Q

c.251G>A

1 paper

NM_002230.4

p.K83R

c.248A>G

1 paper

NM_002230.4

p.A82P

c.244G>C

1 paper

NM_002230.4

p.P91L

c.272C>T

1 paper

NM_002230.4

p.S94*

c.281C>G

1 paper

NM_002230.4

p.S94*

c.281C>A

1 paper

NM_002230.4

p.G95R

c.283G>C

1 paper

NM_002230.4

p.T78I

c.233C>T

2 papers

NM_002230.4

p.S98N

c.293G>A

3 papers

NM_002230.4

p.S99L

c.296C>T

1 paper

NM_002230.4

p.L72_E73insFs

c.216_217insG