Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.N1037D

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
2 papers
NM_001943.5
p.N1037D
c.3109A>G
Surrounding Variants
3 papers
NM_001943.5
p.I1038_V1040del3
c.3112_3119del9
2 papers
NM_001943.5
p.V1040I
c.3118G>A
1 paper
NM_001943.5
p.T1032I
c.3095C>T
1 paper
NM_001943.5
p.Q1042H
c.3126G>C
1 paper
NM_001943.5
p.Q1042H
c.3126G>T
1 paper
NM_001943.5
p.P1031S
c.3091C>T
1 paper
NM_001943.5
p.Q1030R
c.3089A>G
1 paper
NM_001943.5
p.V1044A
c.3131T>C
1 paper
NM_001943.5
p.T1045T
c.3135A>C
1 paper
NM_001943.5
p.G1028D
c.3083G>A
1 paper
NM_001943.5
p.G1028S
c.3082G>A
3 papers
NM_001943.5
p.T1047R
c.3140C>G
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