Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.M282I

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
7 papers
NM_004360.5
p.M282I
c.846G>C
Surrounding Variants
8 papers
NM_004360.5
p.M282I
c.846G>A
7 papers
NM_004360.5
p.M282I
c.846G>T
1 paper
NM_004360.5
p.M282_E283Fs
c.846_848delinsTGFs
1 paper
NM_004360.5
p.E283Q
c.847G>C
1 paper
NM_004360.5
p.E283fs
c.847_848fs
2 papers
NM_004360.5
p.E283*
c.847G>T
1 paper
NM_004360.5
p.V284_A286delFs
c.850_856del7
1 paper
NM_004360.5
p.M282K
c.845T>A
2 papers
NM_004360.5
p.E283G
c.848A>G
1 paper
NM_004360.5
p.E283delFs
c.849delG
1 paper
NM_004360.5
p.M282fs
c.844_845fs
1 paper
NM_004360.5
p.E283D
c.849G>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."