Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.H632fs

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.H632fs
c.1894_1895fs
Surrounding Variants
2 papers
NM_004360.5
p.H632fs
c.1894_1895fs
1 paper
NM_004360.5
p.H632Y
c.1894C>T
1 paper
NM_004360.5
p.T631T
c.1893A>C
2 papers
NM_004360.5
p.T631T
c.1893A>T
1 paper
NM_004360.5
p.H632_G633delFs
c.1896_1897delCG
2 papers
NM_004360.5
p.T631_H632insFs
c.1893_1894insA
20 papers
NM_004360.5
p.H632H
c.1896C>T
1 paper
NM_004360.5
p.T631I
c.1892C>T
1 paper
NM_004360.5
p.G633delFs
c.1898delG
1 paper
NM_004360.5
p.T631insFs
c.1891_1892insAC
1 paper
NM_004360.5
p.G633R
c.1897G>A
4 papers
NM_004360.5
p.H632delFs
c.1895_1896delAC
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