Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.W20fs

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.W20fs
c.58_59fs
Surrounding Variants
30 papers
NM_004360.5
p.W20*
c.59G>A
1 paper
NM_004360.5
p.W20insFs
c.59_60ins8
1 paper
NM_004360.5
p.W20L
c.59G>T
1 paper
NM_004360.5
p.S19S
c.57T>G
1 paper
NM_004360.5
p.S19insFs
c.57dupT
1 paper
NM_004360.5
p.S19C
c.56C>G
1 paper
NM_004360.5
p.S19F
c.56C>T
20 papers
NM_004360.5
p.W20*
c.60G>A
1 paper
NM_004360.5
p.W20C
c.60G>C
1 paper
NM_004360.5
p.W20C
c.60G>T
1 paper
NM_004360.5
p.L21I
c.61C>A
3 papers
NM_004360.5
p.L21fs
c.61_62fs
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