Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.R65fs

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.R65fs
c.193_194fs
Surrounding Variants
2 papers
NM_004360.5
p.R65fs
c.193_194fs
1 paper
NM_004360.5
p.R65W
c.193A>T
4 papers
NM_004360.5
p.Q64Q
c.192A>G
2 papers
NM_004360.5
p.R65K
c.194G>A
1 paper
NM_004360.5
p.R65_L71delFs
c.195_211del17
1 paper
NM_004360.5
p.R65R
c.195G>A
1 paper
NM_004360.5
p.T66insFs
c.196dupA
1 paper
NM_004360.5
p.T66del1
c.196_197delACA
1 paper
NM_004360.5
p.T66fs
c.196_197fs
1 paper
NM_004360.5
p.T66A
c.196A>G
1 paper
NM_004360.5
p.Q64insFs
c.190_191insA
3 papers
NM_004360.5
p.Q64fs
c.190_191fs
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