Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.E629insFs

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.E629insFs
c.1885_1886insA
Surrounding Variants
1 paper
NM_004360.5
p.E629K
c.1885G>A
1 paper
NM_004360.5
p.E629G
c.1886A>G
1 paper
NM_004360.5
p.E629V
c.1886A>T
1 paper
NM_004360.5
p.E629D
c.1887A>T
1 paper
NM_004360.5
p.L630fs
c.1888_1889fs
37 papers
NM_004360.5
p.L630V
c.1888C>G
1 paper
NM_004360.5
p.L630fs
c.1888_1889fs
1 paper
NM_004360.5
p.A628T
c.1882G>A
1 paper
NM_004360.5
p.A628fs
c.1882_1883fs
4 papers
NM_004360.5
p.H632delFs
c.1895_1896delAC
1 paper
NM_004360.5
p.T631insFs
c.1891_1892insAC
1 paper
NM_004360.5
p.T627A
c.1879A>G
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