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.S241L

c.722C>T

Surrounding Variants

1 paper

NM_002230.4

p.E240del1

c.718_720delCTC

1 paper

NM_002230.4

p.S241S

c.723G>A

1 paper

NM_002230.4

p.S236Splc

c.708-2A>C

1 paper

NM_002230.4

p.S236Splc

c.708-3C>A

3 papers

NM_002230.4

p.T249M

c.746C>T

1 paper

NM_002230.4

p.T249R

c.746C>G

1 paper

NM_002230.4

p.H251N

c.751C>A

1 paper

NM_002230.4

p.L253_Y256del4

c.757_767del12

2 papers

NM_002230.4

p.E258K

c.772G>A

1 paper

NM_002230.4

p.E258G

c.773A>G

1 paper

NM_002230.4

p.A260T

c.778G>A

1 paper

NM_002230.4

p.K261fs

c.781_782fs