Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.T253delFs

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.T253delFs
c.757delA
Surrounding Variants
1 paper
NM_004360.5
p.V252E
c.755T>A
1 paper
NM_004360.5
p.V252Fs
c.755delinsAACFs
2 papers
NM_004360.5
p.V252G
c.755T>G
1 paper
NM_004360.5
p.T253_D254delFs
c.757_761del5
1 paper
NM_004360.5
p.V252_D254del0
c.756_761del6
2 papers
NM_004360.5
p.V252fs
c.754_755fs
1 paper
NM_004360.5
p.T253S
c.757A>T
1 paper
NM_004360.5
p.T251T
c.753G>A
1 paper
NM_004360.5
p.T251T
c.753G>T
2 papers
NM_004360.5
p.T251K
c.752C>A
10 papers
NM_004360.5
p.T251_V252insFs
c.753_754insG
1 paper
NM_004360.5
p.T253S
c.758C>G
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