Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.F267insFs

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.F267insFs
c.801dupT
Surrounding Variants
3 papers
NM_004360.5
p.V266I
c.796G>A
1 paper
NM_004360.5
p.V266fs
c.796_797fs
4 papers
NM_004360.5
p.V266F
c.796G>T
1 paper
NM_004360.5
p.K268E
c.802A>G
1 paper
NM_004360.5
p.E265V
c.794A>T
1 paper
NM_004360.5
p.K268*
c.802A>T
1 paper
NM_004360.5
p.E265_M272del0
c.795_815del21
1 paper
NM_004360.5
p.K268R
c.803A>G
1 paper
NM_004360.5
p.K268M
c.803A>T
1 paper
NM_004360.5
p.E265K
c.793G>A
2 papers
NM_004360.5
p.E265Q
c.793G>C
5 papers
NM_004360.5
p.E265*
c.793G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."