Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.D288N

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
8 papers
NM_004360.5
p.D288N
c.862G>A
Surrounding Variants
3 papers
NM_004360.5
p.D288H
c.862G>C
2 papers
NM_004360.5
p.D288fs
c.862_863fs
1 paper
NM_004360.5
p.D288_A289insC
c.862_866ins3
1 paper
NM_004360.5
p.D288delFs
c.863delA
2 papers
NM_004360.5
p.D288fs
c.862_863fs
1 paper
NM_004360.5
p.D288A
c.863A>C
7 papers
NM_004360.5
p.D288G
c.863A>G
5 papers
NM_004360.5
p.D288V
c.863A>T
2 papers
NM_004360.5
p.D288D
c.864C>T
1 paper
NM_004360.5
p.T287_D290delFs
c.861_868del8
1 paper
NM_004360.5
p.T287A
c.859A>G
1 paper
NM_004360.5
p.T287S
c.859A>T
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