Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.V55ins4

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.V55ins4
c.164_165ins12
Surrounding Variants
1 paper
NM_004360.5
p.V55A
c.164T>C
11 papers
NM_004360.5
p.V55G
c.164T>G
2 papers
NM_004360.5
p.V55fs
c.163_164fs
2 papers
NM_004360.5
p.V55Splc
c.164-1G>A
1 paper
NM_004360.5
p.V55delFs
c.164delT
1 paper
NM_004360.5
p.N56fs
c.166_167fs
1 paper
NM_004360.5
p.N56_F57insGCC
c.166_170ins9
2 papers
NM_004360.5
p.V55Splc
c.164-2A>T
1 paper
NM_004360.5
p.N56_F57delFs
c.167_170del4
1 paper
NM_004360.5
p.N56S
c.167A>G
3 papers
NM_004360.5
p.N56I
c.167A>T
1 paper
NM_004360.5
p.F57V
c.169T>G
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