Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.L8L

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.L8L
c.24C>G
Surrounding Variants
11 papers
NM_004360.5
p.S9*
c.26C>A
1 paper
NM_004360.5
p.L8insFs
c.23dupT
2 papers
NM_004360.5
p.S9L
c.26C>T
3 papers
NM_004360.5
p.A10_L11del2
c.28_32del6
2 papers
NM_004360.5
p.S7R
c.21C>A
1 paper
NM_004360.5
p.S7R
c.21C>G
1 paper
NM_004360.5
p.S7S
c.21C>T
1 paper
NM_004360.5
p.S9S
c.27G>A
1 paper
NM_004360.5
p.S9_A10insFs
c.27_28ins17
2 papers
NM_004360.5
p.S9S
c.27G>T
1 paper
NM_004360.5
p.A10T
c.28G>A
2 papers
NM_004360.5
p.S7I
c.20G>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."