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.L733_R734delFs

c.2198_2202del5

Surrounding Variants

1 paper

NM_002230.4

p.P735A

c.2203C>G

1 paper

NM_002230.4

p.L733_R734del0

c.2197_2202del6

2 papers

NM_002230.4

p.P736L

c.2207C>T

1 paper

NM_002230.4

p.P736Q

c.2207C>A

1 paper

NM_002230.4

p.G732S

c.2194G>A

2 papers

NM_002230.4

p.D731N

c.2191G>A

1 paper

NM_002230.4

p.S730G

c.2188A>G

1 paper

NM_002230.4

p.T728delFs

c.2184delG

1 paper

NM_002230.4

p.D727N

c.2179G>A

1 paper

NM_002230.4

p.M718_M720del3

c.2152_2159del9

1 paper

NM_002230.4

p.M716fs

c.2146_2147fs

1 paper

NM_002230.4

p.P713L

c.2138C>T