Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.D292N

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.D292N
c.874G>A
Surrounding Variants
1 paper
NM_004360.5
p.D292fs
c.874_875fs
1 paper
NM_004360.5
p.D292G
c.875A>G
5 papers
NM_004360.5
p.D291N
c.871G>A
3 papers
NM_004360.5
p.D291fs
c.871_872fs
1 paper
NM_004360.5
p.V293L
c.877G>T
1 paper
NM_004360.5
p.D291fs
c.871_872fs
2 papers
NM_004360.5
p.D290E
c.870C>A
2 papers
NM_004360.5
p.D290E
c.870C>G
1 paper
NM_004360.5
p.D290D
c.870C>T
1 paper
NM_004360.5
p.D292_V293del1
c.875_877delATG
1 paper
NM_004360.5
p.V293E
c.878T>A
1 paper
NM_004360.5
p.V293_T303delFs
c.879_907del29
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