Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.K109T

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.K109T
c.326A>C
Surrounding Variants
1 paper
NM_004360.5
p.K109delFs
c.327delG
1 paper
NM_004360.5
p.K109fs
c.325_326fs
1 paper
NM_004360.5
p.S111delFs
c.331delT
5 papers
NM_004360.5
p.R108R
c.324A>G
1 paper
NM_004360.5
p.F110V
c.328T>G
1 paper
NM_004360.5
p.R108fs
c.322_323fs
1 paper
NM_004360.5
p.R108R
c.322A>C
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.F110L
c.330T>A
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