Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.A616V

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.A616V
c.1847C>T
Surrounding Variants
1 paper
NM_001943.5
p.L617F
c.1849C>T
1 paper
NM_001943.5
p.M618I
c.1854G>A
1 paper
NM_001943.5
p.M618I
c.1854G>C
1 paper
NM_001943.5
p.M618I
c.1854G>T
1 paper
NM_001943.5
p.A613T
c.1837G>A
1 paper
NM_001943.5
p.A613fs
c.1837_1838fs
1 paper
NM_001943.5
p.A621_L626del6
c.1861_1877del18
1 paper
NM_001943.5
p.P612delFs
c.1836delC
1 paper
NM_001943.5
p.A621V
c.1862C>T
2 papers
NM_001943.5
p.L610P
c.1829T>C
1 paper
NM_001943.5
p.L610fs
c.1828_1829fs
1 paper
NM_001943.5
p.L610fs
c.1828_1829fs
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