Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.W865C

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
7 papers
NM_004360.5
p.W865C
c.2595G>C
Surrounding Variants
4 papers
NM_004360.5
p.W865*
c.2595G>A
5 papers
NM_004360.5
p.W865C
c.2595G>T
5 papers
NM_004360.5
p.W865*
c.2594G>A
1 paper
NM_004360.5
p.G866R
c.2596G>C
1 paper
NM_004360.5
p.G866V
c.2597G>T
1 paper
NM_004360.5
p.W865R
c.2593T>A
1 paper
NM_004360.5
p.W865R
c.2593T>C
1 paper
NM_004360.5
p.N867T
c.2600A>C
6 papers
NM_004360.5
p.N867S
c.2600A>G
11 papers
NM_004360.5
p.E864K
c.2590G>A
1 paper
NM_004360.5
p.E864fs
c.2590_2591fs
1 paper
NM_004360.5
p.E864*
c.2590G>T
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