Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.A691A

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.A691A
c.2073C>T
Surrounding Variants
1 paper
NM_001943.5
p.G688E
c.2063G>A
2 papers
NM_001943.5
p.S699I
c.2096G>T
1 paper
NM_001943.5
p.S700R
c.2098A>C
1 paper
NM_001943.5
p.S700R
c.2100C>A
1 paper
NM_001943.5
p.S700R
c.2100C>G
1 paper
NM_001943.5
p.S701P
c.2101T>C
2 papers
NM_001943.5
p.I704V
c.2110A>G
1 paper
NM_001943.5
p.G679V
c.2036G>T
1 paper
NM_001943.5
p.G679fs
c.2035_2036fs
1 paper
NM_001943.5
p.G678_G679insFs
c.2034_2035insA
6 papers
NM_001943.5
p.G678A
c.2033G>C
1 paper
NM_001943.5
p.G678R
c.2032G>A
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