Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.G690R

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.G690R
c.2068G>C
Surrounding Variants
1 paper
NM_004360.5
p.E689D
c.2067A>C
1 paper
NM_004360.5
p.E689D
c.2067A>T
1 paper
NM_004360.5
p.G690G
c.2070G>T
3 papers
NM_004360.5
p.A691T
c.2071G>A
1 paper
NM_004360.5
p.A691D
c.2072C>A
1 paper
NM_004360.5
p.A691V
c.2072C>T
1 paper
NM_004360.5
p.A692_G693del2
c.2074_2078del6
9 papers
NM_004360.5
p.C688*
c.2064T>A
1 paper
NM_004360.5
p.A691A
c.2073C>T
2 papers
NM_004360.5
p.C688Y
c.2063G>A
1 paper
NM_004360.5
p.C688S
c.2063G>C
1 paper
NM_004360.5
p.C688F
c.2063G>T
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