Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.A299delFs

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.A299delFs
c.895_896delGC
Surrounding Variants
1 paper
NM_004360.5
p.A298D
c.893C>A
1 paper
NM_004360.5
p.A298V
c.893C>T
2 papers
NM_004360.5
p.A298A
c.894C>T
52 papers
NM_004360.5
p.A298T
c.892G>A
8 papers
NM_004360.5
p.A299T
c.895G>A
3 papers
NM_004360.5
p.A299S
c.895G>T
1 paper
NM_004360.5
p.A298insFs
c.892dupG
1 paper
NM_004360.5
p.N297S
c.890A>G
1 paper
NM_004360.5
p.A299insFs
c.896_897insG
1 paper
NM_004360.5
p.N297D
c.889A>G
1 paper
NM_004360.5
p.I300M
c.900C>G
1 paper
NM_004360.5
p.Y296H
c.886T>C
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