Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.I300M

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.I300M
c.900C>G
Surrounding Variants
6 papers
NM_004360.5
p.A301T
c.901G>A
1 paper
NM_004360.5
p.A301P
c.901G>C
1 paper
NM_004360.5
p.Y302_S306del5
c.904_917del15
1 paper
NM_004360.5
p.A299insFs
c.896_897insG
1 paper
NM_004360.5
p.Y302H
c.904T>C
1 paper
NM_004360.5
p.Y302insFs
c.904_905insA
4 papers
NM_004360.5
p.Y302fs
c.904_905fs
8 papers
NM_004360.5
p.A299T
c.895G>A
3 papers
NM_004360.5
p.A299S
c.895G>T
4 papers
NM_004360.5
p.Y302*
c.906C>A
3 papers
NM_004360.5
p.Y302*
c.906C>G
2 papers
NM_004360.5
p.A298A
c.894C>T
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