Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.D257Y

CDH1

2,725 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

Cadherin_proaa 27–116UCSCCadherin prodomain like
Cadherin_proaa 27–116UCSCCadherin prodomain like
Cadherin_proaa 27–116UCSCCadherin prodomain like
Cadherinaa 159–253UCSCCadherin domain
Cadherinaa 159–253UCSCCadherin domain
Cadherinaa 267–366UCSCCadherin domain

Gene Aliases

HGNC Name

cadherin 1

HGNC Previous Symbol

UVO

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_004360.5
p.D257Y
c.769G>T
Surrounding Variants
8 papers
NM_004360.5
p.D257N
c.769G>A
1 paper
NM_004360.5
p.D257H
c.769G>C
2 papers
NM_004360.5
p.N258del1
c.772_773delAAC
3 papers
NM_004360.5
p.D257A
c.770A>C
8 papers
NM_004360.5
p.D257G
c.770A>G
4 papers
NM_004360.5
p.D257V
c.770A>T
8 papers
NM_004360.5
p.N256K
c.768T>A
7 papers
NM_004360.5
p.N256K
c.768T>G
2 papers
NM_004360.5
p.N256S
c.767A>G
2 papers
NM_004360.5
p.N256I
c.767A>T
1 paper
NM_004360.5
p.N256H
c.766A>C
1 paper
NM_004360.5
p.N258D
c.772A>G
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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."