Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.Y754F

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.Y754F
c.2261A>T
Surrounding Variants
1 paper
NM_004360.5
p.Y754C
c.2261A>G
1 paper
NM_004360.5
p.Y754*
c.2262C>A
1 paper
NM_004360.5
p.Y754*
c.2262C>G
1 paper
NM_004360.5
p.Y755_E758del4
c.2263_2273del12
1 paper
NM_004360.5
p.Y754insFs
c.2261dupA
1 paper
NM_004360.5
p.Y755C
c.2264A>G
1 paper
NM_004360.5
p.Y753F
c.2258A>T
1 paper
NM_004360.5
p.Y755F
c.2264A>T
6 papers
NM_004360.5
p.Y755*
c.2265T>A
3 papers
NM_004360.5
p.Y755*
c.2265T>G
1 paper
NM_004360.5
p.Y753fs
c.2257_2258fs
1 paper
NM_004360.5
p.D756_G761del6
c.2266_2282del18
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