Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.H121fs

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
5 papers
NM_004360.5
p.H121fs
c.361_362fs
Surrounding Variants
1 paper
NM_004360.5
p.H121N
c.361C>A
2 papers
NM_004360.5
p.H121fs
c.361_362fs
1 paper
NM_004360.5
p.H121Y
c.361C>T
2 papers
NM_004360.5
p.H121R
c.362A>G
1 paper
NM_004360.5
p.G120G
c.360G>C
3 papers
NM_004360.5
p.H121Q
c.363C>A
2 papers
NM_004360.5
p.H121Q
c.363C>G
1 paper
NM_004360.5
p.H122fs
c.364_365fs
1 paper
NM_004360.5
p.H122Y
c.364C>T
1 paper
NM_004360.5
p.G120fs
c.358_359fs
1 paper
NM_004360.5
p.H122R
c.365A>G
1 paper
NM_004360.5
p.V119V
c.357G>A
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