Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.I600fs

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.I600fs
c.1798_1799fs
Surrounding Variants
1 paper
NM_004360.5
p.I600fs
c.1798_1799fs
2 papers
NM_004360.5
p.I600K
c.1799T>A
1 paper
NM_004360.5
p.T599N
c.1796C>A
1 paper
NM_004360.5
p.T599insFs
c.1797dupT
7 papers
NM_004360.5
p.T599S
c.1796C>G
1 paper
NM_004360.5
p.T599fs
c.1795_1796fs
2 papers
NM_004360.5
p.T599_I600insGT
c.1795_1799ins6
11 papers
NM_004360.5
p.T599S
c.1795A>T
1 paper
NM_004360.5
p.T599fs
c.1795_1796fs
3 papers
NM_004360.5
p.F601fs
c.1801_1802fs
1 paper
NM_004360.5
p.F601fs
c.1801_1802fs
1 paper
NM_004360.5
p.R598R
c.1794A>G
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