Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.S829S

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.S829S
c.2487T>A
Surrounding Variants
1 paper
NM_004360.5
p.S829A
c.2485T>G
3 papers
NM_004360.5
p.L830insFs
c.2490dupG
2 papers
NM_004360.5
p.S829fs
c.2485_2486fs
1 paper
NM_004360.5
p.D828V
c.2483A>T
1 paper
NM_004360.5
p.L831I
c.2491C>A
1 paper
NM_004360.5
p.L831V
c.2491C>G
2 papers
NM_004360.5
p.L831fs
c.2491_2492fs
1 paper
NM_004360.5
p.D828Y
c.2482G>T
1 paper
NM_001317184.2
p.L770delFs
c.2310delC
1 paper
NM_004360.5
p.L831L
c.2493C>G
7 papers
NM_004360.5
p.Y827*
c.2481T>A
7 papers
NM_004360.5
p.Y827*
c.2481T>G
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."