Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.L52V

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.L52V
c.154C>G
Surrounding Variants
1 paper
NM_004360.5
p.L52fs
c.154_155fs
1 paper
NM_004360.5
p.L52L
c.154C>T
1 paper
NM_004360.5
p.V51V
c.153C>T
1 paper
NM_004360.5
p.L52P
c.155T>C
1 paper
NM_004360.5
p.V51A
c.152T>C
1 paper
NM_004360.5
p.V51_L52insFs
c.153_154insC
1 paper
NM_004360.5
p.V51_L52insFs
c.153_154dupCC
2 papers
NM_004360.5
p.V51I
c.151G>A
1 paper
NM_004360.5
p.G53fs
c.157_158fs
1 paper
NM_004360.5
p.R50R
c.150C>A
2 papers
NM_004360.5
p.G53D
c.158G>A
1 paper
NM_004360.5
p.G53A
c.158G>C
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