Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.L1051_A1052insC

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.L1051_A1052insC
c.3151_3155ins3
Surrounding Variants
1 paper
NM_001943.5
p.L1051P
c.3152T>C
1 paper
NM_001943.5
p.R1049I
c.3146G>T
1 paper
NM_001943.5
p.R1049fs
c.3145_3146fs
1 paper
NM_001943.5
p.E1048_A1054ins2
c.3143_3160dup18
3 papers
NM_001943.5
p.T1047R
c.3140C>G
2 papers
NM_001943.5
p.E1048_R1049delFs
c.3144_3147del4
1 paper
NM_001943.5
p.S1055F
c.3164C>T
1 paper
NM_001943.5
p.T1045T
c.3135A>C
5 papers
NM_001943.5
p.T1056I
c.3167C>T
1 paper
NM_001943.5
p.V1044A
c.3131T>C
6 papers
NM_001943.5
p.S1059T
c.3175T>A
1 paper
NM_001943.5
p.Q1042H
c.3126G>C
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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."