Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.K314fs

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.K314fs
c.940_941fs
Surrounding Variants
1 paper
NM_004360.5
p.K314fs
c.940_941fs
5 papers
NM_004360.5
p.K314*
c.940A>T
1 paper
NM_004360.5
p.K314_N315delFs
c.942_945del4
1 paper
NM_004360.5
p.D313E
c.939C>A
2 papers
NM_004360.5
p.N315insFs
c.944dupA
1 paper
NM_004360.5
p.D313E
c.939C>G
1 paper
NM_004360.5
p.D313insFs
c.939dupC
1 paper
NM_004360.5
p.D313G
c.938A>G
1 paper
NM_004360.5
p.D313delFs
c.939delC
1 paper
NM_004360.5
p.N315insFs
c.943_944insAT
4 papers
NM_004360.5
p.N315fs
c.943_944fs
1 paper
NM_004360.5
p.M316delFs
c.946_947delAT
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