Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.N238fs

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
1 paper
NM_004360.5
p.N238fs
c.712_713fs
Surrounding Variants
2 papers
NM_004360.5
p.N238H
c.712A>C
4 papers
NM_004360.5
p.N238D
c.712A>G
1 paper
NM_004360.5
p.N238S
c.713A>G
1 paper
NM_004360.5
p.N238K
c.714C>A
1 paper
NM_004360.5
p.N238K
c.714C>G
47 papers
NM_004360.5
p.G239R
c.715G>A
35 papers
NM_004360.5
p.G239R
c.715G>C
1 paper
NM_004360.5
p.G239_N240ins0
c.716_718dupGGA
2 papers
NM_004360.5
p.G239W
c.715G>T
1 paper
NM_004360.5
p.S236S
c.708A>C
1 paper
NM_004360.5
p.G239A
c.716G>C
1 paper
NM_004360.5
p.G239delins
c.716_717delinsTT
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