Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.P309fs

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.P309fs
c.925_926fs
Surrounding Variants
3 papers
NM_004360.5
p.P309S
c.925C>T
4 papers
NM_004360.5
p.P309L
c.926C>T
1 paper
NM_004360.5
p.D308D
c.924T>C
1 paper
NM_004360.5
p.E310_T318del9
c.928_953del27
1 paper
NM_004360.5
p.D308N
c.922G>A
1 paper
NM_004360.5
p.E310K
c.928G>A
1 paper
NM_004360.5
p.E310insFs
c.929dupA
1 paper
NM_004360.5
p.D308fs
c.922_923fs
1 paper
NM_004360.5
p.D308Y
c.922G>T
1 paper
NM_004360.5
p.E310A
c.929A>C
1 paper
NM_004360.5
p.Q307Q
c.921A>G
1 paper
NM_004360.5
p.E310E
c.930G>A
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