Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.V694I

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.V694I
c.2080G>A
Surrounding Variants
1 paper
NM_004360.5
p.V694insFs
c.2080_2081insA
1 paper
NM_004360.5
p.G693G
c.2079C>G
1 paper
NM_004360.5
p.G693G
c.2079C>T
1 paper
NM_004360.5
p.G693A
c.2078G>C
6 papers
NM_004360.5
p.G693S
c.2077G>A
1 paper
NM_004360.5
p.G693_V694insG
c.2077_2081ins3
1 paper
NM_004360.5
p.C695S
c.2083T>A
1 paper
NM_004360.5
p.C695R
c.2083T>C
1 paper
NM_004360.5
p.C695_A698insFs
c.2084_2093dup10
1 paper
NM_004360.5
p.C695fs
c.2083_2084fs
1 paper
NM_004360.5
p.C695Y
c.2084G>A
1 paper
NM_004360.5
p.C695S
c.2084G>C
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