Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.E265Q

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.E265Q
c.793G>C
Surrounding Variants
1 paper
NM_004360.5
p.E265K
c.793G>A
5 papers
NM_004360.5
p.E265*
c.793G>T
1 paper
NM_004360.5
p.E265V
c.794A>T
1 paper
NM_004360.5
p.E265_M272del0
c.795_815del21
1 paper
NM_004360.5
p.Q264H
c.792G>C
1 paper
NM_004360.5
p.E265_M272del8
c.793_815del24
5 papers
NM_004360.5
p.Q264*
c.790C>T
1 paper
NM_004360.5
p.Q264_E265delFs
c.791_794del4
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.F267insFs
c.801dupT
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