Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.M272_E273del2

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.M272_E273del2
c.814_818del6
Surrounding Variants
1 paper
NM_004360.5
p.M272fs
c.814_815fs
2 papers
NM_004360.5
p.M272V
c.814A>G
1 paper
NM_004360.5
p.V271I
c.811G>A
2 papers
NM_004360.5
p.V271L
c.811G>C
2 papers
NM_004360.5
p.V271fs
c.811_812fs
1 paper
NM_004360.5
p.V271F
c.811G>T
1 paper
NM_004360.5
p.V271Fs
c.811_812delinsTTAAGGGATATAFs
1 paper
NM_004360.5
p.M272K
c.815T>A
1 paper
NM_004360.5
p.E273_P277del5
c.817_830del15
1 paper
NM_004360.5
p.S270S
c.810T>G
1 paper
NM_004360.5
p.S270Y
c.809C>A
3 papers
NM_004360.5
p.E273K
c.817G>A
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