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.N112S

c.335A>G

Surrounding Variants

2 papers

NM_002230.4

p.R115Q

c.344G>A

1 paper

NM_002230.4

p.G108fs

c.322_323fs

1 paper

NM_002230.4

p.E118_P119insGCA

c.352_356ins9

3 papers

NM_002230.4

p.S99L

c.296C>T

2 papers

NM_002230.4

p.S125L

c.374C>T

2 papers

NM_002230.4

p.S98N

c.293G>A

1 paper

NM_002230.4

p.V128E

c.383T>A

1 paper

NM_002230.4

p.G95R

c.283G>C

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.I131L

c.391A>C

3 papers

NM_002230.4

p.I131del1

c.391_392delGAT