Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.L12V

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.L12V
c.34C>G
Surrounding Variants
2 papers
NM_004360.5
p.L12L
c.34C>T
1 paper
NM_004360.5
p.L11delins
c.33delinsATCA
2 papers
NM_004360.5
p.L11L
c.33G>C
1 paper
NM_004360.5
p.L12L
c.36G>T
2 papers
NM_004360.5
p.L11P
c.32T>C
1 paper
NM_004360.5
p.L11M
c.31C>A
1 paper
NM_004360.5
p.L13M
c.37C>A
1 paper
NM_004360.5
p.L11insFs
c.31_32insCA
2 papers
NM_004360.5
p.L11L
c.31C>T
1 paper
NM_004360.5
p.L13L
c.37C>T
1 paper
NM_004360.5
p.L11Fs
c.31delinsTTFs
3 papers
NM_004360.5
p.L11fs
c.31_32fs
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."