Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.R108R

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.R108R
c.322A>C
Surrounding Variants
1 paper
NM_004360.5
p.R108fs
c.322_323fs
1 paper
NM_004360.5
p.R108G
c.322A>G
2 papers
NM_004360.5
p.R108*
c.322A>T
1 paper
NM_004360.5
p.R108delFs
c.323delG
5 papers
NM_004360.5
p.R108fs
c.322_323fs
1 paper
NM_004360.5
p.Y107*
c.321C>A
1 paper
NM_004360.5
p.Y107*
c.321C>G
2 papers
NM_004360.5
p.R108delFs
c.322delA
5 papers
NM_004360.5
p.R108R
c.324A>G
1 paper
NM_004360.5
p.Y107C
c.320A>G
1 paper
NM_004360.5
p.Y107F
c.320A>T
1 paper
NM_004360.5
p.Y107delFs
c.321delC
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