Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.Y753fs

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.Y753fs
c.2257_2258fs
Surrounding Variants
1 paper
NM_004360.5
p.Y753F
c.2258A>T
2 papers
NM_004360.5
p.V752I
c.2254G>A
1 paper
NM_004360.5
p.V752L
c.2254G>C
1 paper
NM_004360.5
p.Y754insFs
c.2261dupA
1 paper
NM_004360.5
p.Y754C
c.2261A>G
1 paper
NM_004360.5
p.Y754F
c.2261A>T
2 papers
NM_004360.5
p.N751K
c.2253C>A
1 paper
NM_004360.5
p.N751K
c.2253C>G
39 papers
NM_004360.5
p.N751N
c.2253C>T
1 paper
NM_004360.5
p.V752_Y753delFs
c.2254_2257del4
1 paper
NM_004360.5
p.Y754*
c.2262C>A
1 paper
NM_004360.5
p.Y754*
c.2262C>G
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