Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.P126Q

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
2 papers
NM_004360.5
p.P126Q
c.377C>A
Surrounding Variants
3 papers
NM_004360.5
p.P126L
c.377C>T
8 papers
NM_004360.5
p.P126fs
c.376_377fs
2 papers
NM_004360.5
p.P126S
c.376C>T
8 papers
NM_004360.5
p.P126fs
c.376_377fs
1 paper
NM_004360.5
p.P127insFs
c.379_380insC
15 papers
NM_004360.5
p.H128delFs
c.382delC
6 papers
NM_004360.5
p.P127fs
c.379_380fs
3 papers
NM_004360.5
p.P127fs
c.379_380fs
1 paper
NM_004360.5
p.P125_P126ins1
c.375_376insGTC
1 paper
NM_004360.5
p.P127R
c.380C>G
1 paper
NM_004360.5
p.P125L
c.374C>T
1 paper
NM_004360.5
p.P127L
c.380C>T
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