Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.N322Y

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.N322Y
c.964A>T
Surrounding Variants
1 paper
NM_004360.5
p.N322fs
c.964_965fs
1 paper
NM_004360.5
p.N322S
c.965A>G
2 papers
NM_004360.5
p.N322I
c.965A>T
1 paper
NM_004360.5
p.N322_T330insFs
c.964_988dup25
1 paper
NM_004360.5
p.R321_N322insFs
c.963_964insT
1 paper
NM_004360.5
p.T323del1
c.967_969delACA
1 paper
NM_004360.5
p.R321K
c.962G>A
1 paper
NM_004360.5
p.N320K
c.960C>A
1 paper
NM_004360.5
p.T323R
c.968C>G
1 paper
NM_004360.5
p.T323I
c.968C>T
1 paper
NM_004360.5
p.G324insFs
c.970dupG
1 paper
NM_004360.5
p.N320S
c.959A>G
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