Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.L276F

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
2 papers
NM_004360.5
p.L276F
c.826C>T
Surrounding Variants
2 papers
NM_004360.5
p.L276I
c.826C>A
1 paper
NM_004360.5
p.L276delFs
c.828delT
1 paper
NM_004360.5
p.L276_P277delFs
c.828_831del4
1 paper
NM_004360.5
p.L276L
c.828T>A
1 paper
NM_004360.5
p.L276L
c.828T>C
1 paper
NM_004360.5
p.P277delFs
c.830delC
2 papers
NM_004360.5
p.P277fs
c.829_830fs
1 paper
NM_004360.5
p.P277_G278ins10
c.829_833ins30
1 paper
NM_004360.5
p.P277fs
c.829_830fs
1 paper
NM_004360.5
p.A275T
c.823G>A
1 paper
NM_004360.5
p.A275fs
c.823_824fs
1 paper
NM_004360.5
p.A275S
c.823G>T
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