Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.C28F

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.C28F
c.83G>T
Surrounding Variants
3 papers
NM_004360.5
p.C28Y
c.83G>A
1 paper
NM_004360.5
p.C28_H29delFs
c.84_85delCC
7 papers
NM_004360.5
p.C28fs
c.82_83fs
2 papers
NM_004360.5
p.H29insFs
c.86dupA
2 papers
NM_004360.5
p.H29fs
c.85_86fs
5 papers
NM_004360.5
p.H29R
c.86A>G
1 paper
NM_004360.5
p.H29_P30Fs
c.86_89delinsGTGFs
1 paper
NM_004360.5
p.P27insFs
c.80_81insCT
2 papers
NM_004360.5
p.P27insFs
c.80_81insT
1 paper
NM_004360.5
p.P27R
c.80C>G
1 paper
NM_004360.5
p.P27T
c.79C>A
1 paper
NM_004360.5
p.H29Q
c.87C>A
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