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

17 papers

NM_002230.4

p.M697L

c.2089A>T

Surrounding Variants

15 papers

NM_002230.4

p.M697L

c.2089A>C

1 paper

NM_002230.4

p.R702C

c.2104C>T

1 paper

NM_002230.4

p.R702H

c.2105G>A

1 paper

NM_002230.4

p.V709M

c.2125G>A

2 papers

NM_002230.4

p.P710S

c.2128C>T

1 paper

NM_002230.4

p.P713L

c.2138C>T

1 paper

NM_002230.4

p.M716fs

c.2146_2147fs

1 paper

NM_002230.4

p.M718_M720del3

c.2152_2159del9

1 paper

NM_002230.4

p.D727N

c.2179G>A

1 paper

NM_002230.4

p.T728delFs

c.2184delG

1 paper

NM_002230.4

p.S730G

c.2188A>G

2 papers

NM_002230.4

p.D731N

c.2191G>A