Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.T118S

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.T118S
c.352A>T
Surrounding Variants
1 paper
NM_004360.5
p.T118fs
c.352_353fs
14 papers
NM_004360.5
p.T118R
c.353C>G
3 papers
NM_004360.5
p.T118I
c.353C>T
1 paper
NM_004360.5
p.N117K
c.351T>A
1 paper
NM_004360.5
p.N117T
c.350A>C
1 paper
NM_004360.5
p.N117S
c.350A>G
3 papers
NM_004360.5
p.N117D
c.349A>G
1 paper
NM_004360.5
p.N117fs
c.349_350fs
1 paper
NM_004360.5
p.V119M
c.355G>A
1 paper
NM_004360.5
p.V119L
c.355G>C
2 papers
NM_004360.5
p.V119fs
c.355_356fs
2 papers
NM_004360.5
p.V119L
c.355G>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."