Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.S327fs

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.S327fs
c.979_980fs
Surrounding Variants
1 paper
NM_004360.5
p.S327G
c.979A>G
1 paper
NM_004360.5
p.S327I
c.980G>T
3 papers
NM_004360.5
p.I326N
c.977T>A
1 paper
NM_004360.5
p.V328_V329ins0
c.984_986dupGGT
1 paper
NM_004360.5
p.V328fs
c.982_983fs
1 paper
NM_004360.5
p.V329_G332delFs
c.986_995del10
1 paper
NM_004360.5
p.V325V
c.975C>G
1 paper
NM_004360.5
p.V325A
c.974T>C
2 papers
NM_004360.5
p.V325I
c.973G>A
1 paper
NM_004360.5
p.V329L
c.985G>C
1 paper
NM_004360.5
p.V325F
c.973G>T
1 paper
NM_004360.5
p.V329F
c.985G>T
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