Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.T40A

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.T40A
c.118A>G
Surrounding Variants
1 paper
NM_004360.5
p.T40fs
c.118_119fs
1 paper
NM_004360.5
p.T40K
c.119C>A
1 paper
NM_004360.5
p.T40M
c.119C>T
1 paper
NM_004360.5
p.V41_L46del6
c.121_137del18
1 paper
NM_004360.5
p.T40T
c.120G>A
1 paper
NM_004360.5
p.F39C
c.116T>G
1 paper
NM_004360.5
p.V41insFs
c.121_122insT
1 paper
NM_004360.5
p.V41L
c.121G>T
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.F39_H45del7
c.115_134del21
2 papers
NM_004360.5
p.T38K
c.113C>A
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