Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.E659D

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.E659D
c.1977G>T
Surrounding Variants
1 paper
NM_004360.5
p.E659D
c.1977G>C
1 paper
NM_004360.5
p.V660insFs
c.1978dupG
2 papers
NM_004360.5
p.V660M
c.1978G>A
1 paper
NM_001317184.2
p.V599fs
c.1795_1796fs
5 papers
NM_004360.5
p.V660insFs
c.1979_1980insT
NM_001317184.2
p.V599insFs
c.1796dupT
1 paper
NM_004360.5
p.V660fs
c.1978_1979fs
1 paper
NM_004360.5
p.E659_V660ins6
c.1975_1979ins18
1 paper
NM_004360.5
p.V660A
c.1979T>C
2 papers
NM_004360.5
p.G661delFs
c.1982delG
2 papers
NM_004360.5
p.G661fs
c.1981_1982fs
1 paper
NM_004360.5
p.L658fs
c.1972_1973fs
1 paper
NM_004360.5
p.L658insFs
c.1973dupT
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