Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.V149F

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
3 papers
NM_001943.5
p.V149F
c.445G>T
Surrounding Variants
3 papers
NM_001943.5
p.V149I
c.445G>A
1 paper
NM_001943.5
p.K148_D151del4
c.442_452del12
6 papers
NM_001943.5
p.R146H
c.437G>A
3 papers
NM_001943.5
p.R146L
c.437G>T
2 papers
NM_001943.5
p.N153S
c.458A>G
4 papers
NM_001943.5
p.E144K
c.430G>A
1 paper
NM_001943.5
p.L143F
c.429A>C
1 paper
NM_001943.5
p.L143F
c.429A>T
7 papers
NM_001943.5
p.D154E
c.462C>A
7 papers
NM_001943.5
p.D154E
c.462C>G
2 papers
NM_001943.5
p.N155insFs
c.464_465insT
2 papers
NM_001943.5
p.P142T
c.424C>A
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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."