Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.I301T

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.I301T
c.902T>C
Surrounding Variants
2 papers
NM_001943.5
p.S303F
c.908C>T
6 papers
NM_001943.5
p.A298T
c.892G>A
5 papers
NM_001943.5
p.D297G
c.890A>G
6 papers
NM_001943.5
p.D297N
c.889G>A
1 paper
NM_001943.5
p.W306delFs
c.917_918delGG
12 papers
NM_001943.5
p.W306*
c.917G>A
13 papers
NM_001943.5
p.W306*
c.918G>A
1 paper
NM_001943.5
p.F296_D297insA
c.886_890ins3
3 papers
NM_001943.5
p.V295fs
c.883_884fs
1 paper
NM_001943.5
p.V295_F296delFs
c.885_886delGT
17 papers
NM_001943.5
p.K294E
c.880A>G
4 papers
NM_001943.5
p.K294_V295insFs
c.882_883insA
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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."