Varaico: Literature-Extracted Genetic Variants

Gene:CDH3
Variant:p.R175W

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
2 papers
NM_001793.6
p.R175W
c.523C>T
Surrounding Variants
1 paper
NM_001793.6
p.R175Q
c.524G>A
1 paper
NM_001793.6
p.P172delFs
c.514delC
16 papers
NM_001793.6
p.L168*
c.503T>A
1 paper
NM_001793.6
p.E182Q
c.544G>C
1 paper
NM_001793.6
p.L168V
c.502T>G
1 paper
NM_001793.6
p.W166*
c.498G>A
1 paper
NM_001793.6
p.W166*
c.497G>A
1 paper
NM_001793.6
p.W166_L169del0
c.498_506del9
1 paper
NM_001793.6
p.T164fs
c.490_491fs
3 papers
NM_001793.6
p.T164insFs
c.490_491insA
1 paper
NM_001793.6
p.A159T
c.475G>A
1 paper
NM_001793.6
p.G156insFs
c.467_468insT
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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."