Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.H92N

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.H92N
c.274C>A
Surrounding Variants
1 paper
NM_004360.5
p.H92D
c.274C>G
4 papers
NM_004360.5
p.H92Y
c.274C>T
2 papers
NM_004360.5
p.F91L
c.273T>A
2 papers
NM_004360.5
p.F91L
c.273T>G
2 papers
NM_004360.5
p.H92H
c.276T>C
2 papers
NM_004360.5
p.N93delFs
c.277delA
1 paper
NM_004360.5
p.H92del1
c.274_276delCAT
1 paper
NM_004360.5
p.F91_N93delFs
c.273_277del5
1 paper
NM_004360.5
p.N93insFs
c.277_278ins10
1 paper
NM_004360.5
p.N93D
c.277A>G
1 paper
NM_004360.5
p.N93Y
c.277A>T
2 papers
NM_004360.5
p.F91L
c.271T>C
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