Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.D254E

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
5 papers
NM_004360.5
p.D254E
c.762T>A
Surrounding Variants
5 papers
NM_004360.5
p.D254E
c.762T>G
1 paper
NM_004360.5
p.Q255delFs
c.763delC
2 papers
NM_004360.5
p.D254G
c.761A>G
5 papers
NM_004360.5
p.D254V
c.761A>T
1 paper
NM_004360.5
p.Q255K
c.763C>A
1 paper
NM_004360.5
p.Q255fs
c.763_764fs
10 papers
NM_004360.5
p.Q255*
c.763C>T
2 papers
NM_004360.5
p.Q255P
c.764A>C
1 paper
NM_004360.5
p.Q255R
c.764A>G
2 papers
NM_004360.5
p.Q255L
c.764A>T
27 papers
NM_004360.5
p.D254N
c.760G>A
7 papers
NM_004360.5
p.D254H
c.760G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."