Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.T38M

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
3 papers
NM_004360.5
p.T38M
c.113C>T
Surrounding Variants
2 papers
NM_004360.5
p.T38K
c.113C>A
1 paper
NM_004360.5
p.T38_F39insG
c.112_116ins3
1 paper
NM_004360.5
p.F39_H45del7
c.115_134del21
1 paper
NM_004360.5
p.Y37*
c.111C>A
1 paper
NM_004360.5
p.Y37*
c.111C>G
1 paper
NM_004360.5
p.T38_L46del9
c.112_137del27
1 paper
NM_004360.5
p.F39V
c.115T>G
1 paper
NM_004360.5
p.F39fs
c.115_116fs
1 paper
NM_004360.5
p.Y37C
c.110A>G
1 paper
NM_004360.5
p.Y37_T38Fs
c.109_112delinsTGFs
1 paper
NM_004360.5
p.F39C
c.116T>G
1 paper
NM_004360.5
p.Y37insFs
c.110dupA
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