Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.N622S

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
5 papers
NM_004360.5
p.N622S
c.1865A>G
Surrounding Variants
1 paper
NM_004360.5
p.T623_S624insFs
c.1867_1870dup4
1 paper
NM_004360.5
p.N622D
c.1864A>G
1 paper
NM_004360.5
p.T623del1
c.1867_1868delACA
1 paper
NM_004360.5
p.T623S
c.1867A>T
2 papers
NM_001317184.2
p.P560R
c.1679C>G
1 paper
NM_004360.5
p.P621A
c.1861C>G
1 paper
NM_004360.5
p.P621delFs
c.1861delC
1 paper
NM_004360.5
p.S624fs
c.1870_1871fs
2 papers
NM_004360.5
p.P620fs
c.1858_1859fs
1 paper
NM_004360.5
p.P625_A634del10
c.1873_1901del30
1 paper
NM_004360.5
p.P625fs
c.1873_1874fs
1 paper
NM_004360.5
p.P625S
c.1873C>T
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