Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.R63*

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
52 papers
NM_004360.5
p.R63*
c.187C>T
Surrounding Variants
1 paper
NM_004360.5
p.R63G
c.187C>G
1 paper
NM_004360.5
p.R63fs
c.187_188fs
11 papers
NM_004360.5
p.R63Q
c.188G>A
2 papers
NM_004360.5
p.R63P
c.188G>C
1 paper
NM_004360.5
p.R63_A67insFs
c.188_201dup14
1 paper
NM_004360.5
p.R63R
c.189A>G
4 papers
NM_004360.5
p.G62D
c.185G>A
1 paper
NM_004360.5
p.G62insFs
c.185_186insA
24 papers
NM_004360.5
p.G62V
c.185G>T
1 paper
NM_004360.5
p.G62_R63delFs
c.186_187delTC
1 paper
NM_004360.5
p.Q64insFs
c.190_191insA
3 papers
NM_004360.5
p.Q64fs
c.190_191fs
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