Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.A917V

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.A917V
c.2750C>T
Surrounding Variants
1 paper
NM_001943.5
p.A917_Q918del2
c.2749_2753del6
1 paper
NM_001943.5
p.A921_T922insFs
c.2761_2764dup4
1 paper
NM_001943.5
p.S914S
c.2742T>C
23 papers
NM_001943.5
p.V920G
c.2759T>G
1 paper
NM_001943.5
p.T922delFs
c.2765_2766delCA
1 paper
NM_001943.5
p.T922fs
c.2764_2765fs
1 paper
NM_001943.5
p.L924F
c.2770C>T
1 paper
NM_001943.5
p.R910K
c.2729G>A
6 papers
NM_001943.5
p.P925S
c.2773C>T
1 paper
NM_001943.5
p.D926Y
c.2776G>T
8 papers
NM_001943.5
p.P927L
c.2780C>T
1 paper
NM_001943.5
p.E905ins1
c.2714_2715insAAT
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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."