Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.Y827insFs

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
2 papers
NM_004360.5
p.Y827insFs
c.2480dupA
Surrounding Variants
3 papers
NM_004360.5
p.Y827fs
c.2479_2480fs
1 paper
NM_004360.5
p.P826P
c.2478T>A
1 paper
NM_004360.5
p.Y827delFs
c.2479_2480delTA
1 paper
NM_004360.5
p.Y827delFs
c.2479delT
7 papers
NM_004360.5
p.Y827*
c.2481T>A
7 papers
NM_004360.5
p.Y827*
c.2481T>G
1 paper
NM_004360.5
p.D828_L831del4
c.2482_2492del12
2 papers
NM_004360.5
p.P826fs
c.2476_2477fs
2 papers
NM_004360.5
p.P826fs
c.2476_2477fs
1 paper
NM_004360.5
p.D828Y
c.2482G>T
1 paper
NM_004360.5
p.D828V
c.2483A>T
1 paper
NM_004360.5
p.P825Q
c.2474C>A
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