Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.G885_S886del2

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.G885_S886del2
c.2653_2657del6
Surrounding Variants
2 papers
NM_001943.5
p.S883F
c.2648C>T
3 papers
NM_001943.5
p.S883P
c.2647T>C
2 papers
NM_001943.5
p.Y882_S883insA
c.2644_2648ins3
1 paper
NM_001943.5
p.P889L
c.2666C>T
3 papers
NM_001943.5
p.M875V
c.2623A>G
1 paper
NM_001943.5
p.T874S
c.2621C>G
2 papers
NM_001943.5
p.L894W
c.2681T>G
1 paper
NM_001943.5
p.T874S
c.2620A>T
1 paper
NM_001943.5
p.T874fs
c.2620_2621fs
1 paper
NM_001943.5
p.Q895R
c.2684A>G
1 paper
NM_001943.5
p.T874delFs
c.2620delA
2 papers
NM_001943.5
p.E896K
c.2686G>A
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."