Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.E273_P277del5

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.E273_P277del5
c.817_830del15
Surrounding Variants
3 papers
NM_004360.5
p.E273K
c.817G>A
1 paper
NM_004360.5
p.E273Q
c.817G>C
2 papers
NM_004360.5
p.E273*
c.817G>T
1 paper
NM_004360.5
p.M272K
c.815T>A
1 paper
NM_004360.5
p.M272fs
c.814_815fs
1 paper
NM_004360.5
p.E273A
c.818A>C
2 papers
NM_004360.5
p.M272V
c.814A>G
1 paper
NM_004360.5
p.E273G
c.818A>G
2 papers
NM_004360.5
p.E273_P277del0
c.819_830del12
1 paper
NM_004360.5
p.G274_L276del3
c.820_827del9
1 paper
NM_004360.5
p.M272_E273del2
c.814_818del6
13 papers
NM_004360.5
p.G274S
c.820G>A
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