Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.E813_N814Splc

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.E813_N814Splc
c.2439+103T>G
Surrounding Variants
2 papers
NM_004360.5
p.E813_N814Splc
c.2439+56T>G
5 papers
NM_004360.5
p.E813_N814Splc
c.2439+52G>A
2 papers
NM_004360.5
p.E813_N814Splc
c.2439+31G>A
1 paper
NM_004360.5
p.E813_N814Splc
c.2439+22C>T
4 papers
NM_004360.5
p.E813_N814Splc
c.2439+10C>T
1 paper
NM_004360.5
p.E813_N814Splc
c.2439+2T>G
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.E813G
c.2438A>G
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.E813insFs
c.2437dupG
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