Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.P42S

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.P42S
c.124C>T
Surrounding Variants
2 papers
NM_004360.5
p.P42A
c.124C>G
1 paper
NM_004360.5
p.P42fs
c.124_125fs
1 paper
NM_004360.5
p.P42Fs
c.124_126delinsTFs
1 paper
NM_004360.5
p.P42H
c.125C>A
2 papers
NM_004360.5
p.P42L
c.125C>T
1 paper
NM_004360.5
p.R43insFs
c.127dupC
1 paper
NM_004360.5
p.V41V
c.123G>T
1 paper
NM_004360.5
p.R43delFs
c.127delC
1 paper
NM_004360.5
p.R43R
c.127C>A
2 papers
NM_004360.5
p.R43fs
c.127_128fs
1 paper
NM_004360.5
p.R43fs
c.127_128fs
1 paper
NM_004360.5
p.V41insFs
c.121_122insT
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