Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.I665fs

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
2 papers
NM_004360.5
p.I665fs
c.1993_1994fs
Surrounding Variants
1 paper
NM_004360.5
p.I665fs
c.1993_1994fs
1 paper
NM_004360.5
p.K664R
c.1991A>G
1 paper
NM_004360.5
p.I665I
c.1995C>A
2 papers
NM_004360.5
p.N666fs
c.1996_1997fs
1 paper
NM_004360.5
p.K664fs
c.1990_1991fs
2 papers
NM_004360.5
p.N666H
c.1996A>C
1 paper
NM_004360.5
p.K664*
c.1990A>T
1 paper
NM_004360.5
p.N666Y
c.1996A>T
1 paper
NM_004360.5
p.N666S
c.1997A>G
1 paper
NM_004360.5
p.Y663*
c.1989C>A
1 paper
NM_004360.5
p.Y663*
c.1989C>G
3 papers
NM_004360.5
p.I665delFs
c.1993delA
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