Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.D812_E813insFs

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.D812_E813insFs
c.2436_2437insT
Surrounding Variants
1 paper
NM_004360.5
p.D812Y
c.2434G>T
1 paper
NM_004360.5
p.E813insFs
c.2437dupG
1 paper
NM_004360.5
p.E813*
c.2437G>T
1 paper
NM_004360.5
p.E813fs
c.2437_2438fs
1 paper
NM_004360.5
p.E813G
c.2438A>G
1 paper
NM_004360.5
p.I811T
c.2432T>C
1 paper
NM_004360.5
p.I811fs
c.2431_2432fs
1 paper
NM_004360.5
p.E813_N814Splc
c.2439+1G>C
3 papers
NM_004360.5
p.E813_N814Splc
c.2439+1G>T
1 paper
NM_004360.5
p.F810L
c.2430T>A
1 paper
NM_004360.5
p.F810L
c.2430T>G
1 paper
NM_004360.5
p.F810C
c.2429T>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."