Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.F869L

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.F869L
c.2607C>G
Surrounding Variants
2 papers
NM_004360.5
p.F869L
c.2607C>A
3 papers
NM_004360.5
p.K870R
c.2609A>G
2 papers
NM_004360.5
p.F869L
c.2605T>C
1 paper
NM_004360.5
p.F869_K870insT
c.2605_2609ins3
5 papers
NM_004360.5
p.R868H
c.2603G>A
1 paper
NM_004360.5
p.K871R
c.2612A>G
1 paper
NM_004360.5
p.R868S
c.2602C>A
4 papers
NM_004360.5
p.R868C
c.2602C>T
1 paper
NM_004360.5
p.N867T
c.2600A>C
6 papers
NM_004360.5
p.N867S
c.2600A>G
1 paper
NM_004360.5
p.L872_A873insC
c.2614_2618ins3
1 paper
NM_004360.5
p.G866V
c.2597G>T
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