Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.Q857*

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.Q857*
c.2569C>T
Surrounding Variants
1 paper
NM_004360.5
p.Q857_L862del6
c.2569_2585del18
2 papers
NM_004360.5
p.D856Y
c.2566G>T
1 paper
NM_004360.5
p.Y859_G866del8
c.2575_2597del24
1 paper
NM_004360.5
p.Q857_D858del0
c.2569_2574del6
1 paper
NM_004360.5
p.Y859C
c.2576A>G
1 paper
NM_004360.5
p.D854V
c.2561A>T
2 papers
NM_004360.5
p.D854N
c.2560G>A
1 paper
NM_004360.5
p.D860N
c.2578G>A
1 paper
NM_004360.5
p.D854H
c.2560G>C
1 paper
NM_004360.5
p.D854fs
c.2560_2561fs
3 papers
NM_004360.5
p.S853L
c.2558C>T
2 papers
NM_004360.5
p.S853P
c.2557T>C
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