Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.Q16_V17Splc

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.Q16_V17Splc
c.49-3C>A
Surrounding Variants
1 paper
NM_004360.5
p.Q16_V17Splc
c.49-3C>T
1 paper
NM_004360.5
p.V17insFs
c.49dupG
13 papers
NM_004360.5
p.Q16_V17Splc
c.49-2A>C
16 papers
NM_004360.5
p.Q16_V17Splc
c.49-2A>G
1 paper
NM_004360.5
p.Q16_V17Splc
c.49-5C>T
1 paper
NM_004360.5
p.Q16_V17Splc
c.49-1G>A
3 papers
NM_004360.5
p.Q16_V17Splc
c.49-1G>C
2 papers
NM_004360.5
p.V17I
c.49G>A
1 paper
NM_004360.5
p.V17_S18insGCG
c.49_53ins9
3 papers
NM_004360.5
p.V17F
c.49G>T
1 paper
NM_004360.5
p.V17A
c.50T>C
1 paper
NM_004360.5
p.V17insFs
c.50_51insAG
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