Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.L15insFs

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
4 papers
NM_004360.5
p.L15insFs
c.44dupT
Surrounding Variants
1 paper
NM_004360.5
p.L15M
c.43C>A
1 paper
NM_004360.5
p.L15_Q16insT
c.43_47ins3
1 paper
NM_004360.5
p.L15Q
c.44T>A
1 paper
NM_004360.5
p.L15insFs
c.44_45insA
1 paper
NM_004360.5
p.Q16del1
c.46_47delCAG
1 paper
NM_004360.5
p.L15_Q16insFs
c.45_46insC
15 papers
NM_004360.5
p.L15_Q16insFs
c.45_46insT
1 paper
NM_004360.5
p.L15L
c.45G>T
5 papers
NM_004360.5
p.L14Q
c.41T>A
1 paper
NM_004360.5
p.L14P
c.41T>C
1 paper
NM_004360.5
p.L14M
c.40C>A
2 papers
NM_004360.5
p.Q16fs
c.46_47fs
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