Varaico: Literature-Extracted Genetic Variants

Gene:CDH3
Variant:p.M269L

CDH3

220 papers

RefSeq Summary

This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically ...

Pfam Domains

Cadherinaa 112–206UCSCCadherin domain
Cadherinaa 220–319UCSCCadherin domain
Cadherinaa 333–432UCSCCadherin domain
Cadherinaa 445–539UCSCCadherin domain
CADH_Y-type_LIRaa 765–824UCSCCadherin, Y-type LIR-motif

Gene Aliases

HGNC Name

cadherin 3

HGNC Alias Symbols

CDHP; PCAD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001793.6
p.M269L
c.805A>T
Surrounding Variants
4 papers
NM_001793.6
p.M269L
c.805A>C
5 papers
NM_001793.6
p.T271T
c.813C>A
1 paper
NM_001793.6
p.I272N
c.815T>A
1 paper
NM_001793.6
p.R274Q
c.821G>A
1 paper
NM_001793.6
p.D264delFs
c.790delG
22 papers
NM_001793.6
p.G277delFs
c.830delG
4 papers
NM_001793.6
p.G277fs
c.829_830fs
5 papers
NM_001793.6
p.G277fs
c.829_830fs
4 papers
NM_001793.6
p.G277V
c.830G>T
1 paper
NM_001793.6
p.I282T
c.845T>C
1 paper
NM_001793.6
p.Y255delFs
c.763delT
1 paper
NM_001793.6
p.G285A
c.854G>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."