Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.H123insFs

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.H123insFs
c.368_369insC
Surrounding Variants
1 paper
NM_004360.5
p.H123_P125insFs
c.369_375dup7
4 papers
NM_004360.5
p.H123Q
c.369C>A
4 papers
NM_004360.5
p.H123Q
c.369C>G
1 paper
NM_004360.5
p.H123D
c.367C>G
4 papers
NM_004360.5
p.H123Y
c.367C>T
1 paper
NM_004360.5
p.H123H
c.369C>T
1 paper
NM_004360.5
p.R124insFs
c.371dupG
2 papers
NM_004360.5
p.R124fs
c.370_371fs
5 papers
NM_004360.5
p.R124C
c.370C>T
1 paper
NM_004360.5
p.H122R
c.365A>G
8 papers
NM_004360.5
p.R124H
c.371G>A
9 papers
NM_004360.5
p.P126insFs
c.377dupC
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