Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.S105F

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.S105F
c.314C>T
Surrounding Variants
3 papers
NM_004360.5
p.S105T
c.313T>A
3 papers
NM_004360.5
p.S105delFs
c.315delC
1 paper
NM_004360.5
p.T106fs
c.316_317fs
2 papers
NM_004360.5
p.T106I
c.317C>T
1 paper
NM_004360.5
p.T106T
c.318C>T
2 papers
NM_004360.5
p.D104N
c.310G>A
1 paper
NM_004360.5
p.D104fs
c.310_311fs
8 papers
NM_004360.5
p.W103*
c.309G>A
1 paper
NM_004360.5
p.D104_T106del0
c.310_318del9
1 paper
NM_004360.5
p.Y107insFs
c.320dupA
2 papers
NM_004360.5
p.R108_T115delFs
c.322_344del23
1 paper
NM_004360.5
p.Y107C
c.320A>G
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