Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.M1K

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
3 papers
NM_004360.5
p.M1K
c.2T>A
Surrounding Variants
12 papers
NM_004360.5
p.M1T
c.2T>C
5 papers
NM_004360.5
p.M1R
c.2T>G
4 papers
NM_004360.5
p.M1insFs
c.2_3insG
1 paper
NM_004360.5
p.M1insFs
c.2_3ins4
1 paper
NM_004360.5
p.G2delFs
c.4delG
1 paper
NM_004360.5
p.M1ins1
c.1_2insCTT
1 paper
NM_004360.5
p.M1fs
c.1_2fs
28 papers
NM_004360.5
p.M1insFs
c.2dupT
1 paper
NM_004360.5
p.M1insFs
c.2_3ins5
4 papers
NM_004360.5
p.M1L
c.1A>C
7 papers
NM_004360.5
p.M1V
c.1A>G
5 papers
NM_004360.5
p.M1L
c.1A>T
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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."