Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.V392I

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
30 papers
NM_001943.5
p.V392I
c.1174G>A
Surrounding Variants
1 paper
NM_001943.5
p.S391R
c.1173C>A
1 paper
NM_001943.5
p.S391R
c.1173C>G
1 paper
NM_001943.5
p.V392D
c.1175T>A
1 paper
NM_001943.5
p.S391R
c.1171A>C
1 paper
NM_001943.5
p.F388C
c.1163T>G
1 paper
NM_001943.5
p.E399K
c.1195G>A
2 papers
NM_001943.5
p.M401I
c.1203G>T
1 paper
NM_001943.5
p.D402N
c.1204G>A
1 paper
NM_001943.5
p.V382L
c.1144G>C
1 paper
NM_001943.5
p.V382L
c.1144G>T
2 papers
NM_001943.5
p.N381delFs
c.1143delT
1 paper
NM_001943.5
p.N381Y
c.1141A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."