Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.Y342*

DSG2

779 papers

RefSeq Summary

This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, ce...

Pfam Domains

Cadherinaa 164–263UCSCCadherin domain
Cadherinaa 278–378UCSCCadherin domain
Cadherinaa 396–490UCSCCadherin domain

Gene Aliases

HGNC Name

desmoglein 2

HGNC Alias Symbol

CDHF5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001943.5
p.Y342*
c.1026T>G
Surrounding Variants
1 paper
NM_001943.5
p.Y342*
c.1026T>A
1 paper
NM_001943.5
p.E343delFs
c.1029delA
2 papers
NM_001943.5
p.D341E
c.1023T>G
10 papers
NM_001943.5
p.K346del1
c.1036_1037delAAG
1 paper
NM_001943.5
p.E339_V340insA
c.1015_1019ins3
1 paper
NM_001943.5
p.E339fs
c.1015_1016fs
1 paper
NM_001943.5
p.E339delFs
c.1015delG
1 paper
NM_001943.5
p.D349N
c.1045G>A
1 paper
NM_001943.5
p.F350insFs
c.1050dupC
1 paper
NM_001943.5
p.S351insFs
c.1051_1052insC
2 papers
NM_001943.5
p.S351fs
c.1051_1052fs
1 paper
NM_001943.5
p.S351R
c.1051A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."