Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.T589fs

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.T589fs
c.1765_1766fs
Surrounding Variants
1 paper
NM_001943.5
p.T589insFs
c.1765dupA
1 paper
NM_001943.5
p.T589insFs
c.1765_1766insAA
1 paper
NM_001943.5
p.V590I
c.1768G>A
5 papers
NM_001943.5
p.C591_E592delFs
c.1773_1774delTG
1 paper
NM_001943.5
p.C591fs
c.1771_1772fs
5 papers
NM_001943.5
p.C591*
c.1773T>A
2 papers
NM_001943.5
p.E592K
c.1774G>A
3 papers
NM_001943.5
p.C593_L594insFs
c.1779_1780insC
2 papers
NM_001943.5
p.Q584*
c.1750C>T
4 papers
NM_001943.5
p.L594P
c.1781T>C
1 paper
NM_001943.5
p.H595R
c.1784A>G
1 paper
NM_001943.5
p.H595Q
c.1785T>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."