Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.G577R

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.G577R
c.1729G>C
Surrounding Variants
1 paper
NM_001943.5
p.Q576_G577insFs
c.1728_1729ins4
1 paper
NM_001943.5
p.L571insFs
c.1711_1712insG
2 papers
NM_001943.5
p.Q584*
c.1750C>T
1 paper
NM_001943.5
p.E567K
c.1699G>A
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.T589fs
c.1765_1766fs
1 paper
NM_001943.5
p.V590I
c.1768G>A
3 papers
NM_001943.5
p.L563R
c.1688T>G
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
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