Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.G78insFs

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.G78insFs
c.232_233insAA
Surrounding Variants
1 paper
NM_004360.5
p.G78_T79insC
c.232_236ins3
2 papers
NM_004360.5
p.G78C
c.232G>T
4 papers
NM_004360.5
p.G78D
c.233G>A
2 papers
NM_004360.5
p.G78V
c.233G>T
1 paper
NM_004360.5
p.G78_D80del0
c.234_239del6
1 paper
NM_004360.5
p.G78G
c.234C>A
1 paper
NM_004360.5
p.G78G
c.234C>T
1 paper
NM_004360.5
p.V77_D80del0
c.231_239del9
3 papers
NM_004360.5
p.T79A
c.235A>G
1 paper
NM_004360.5
p.V77M
c.229G>A
1 paper
NM_004360.5
p.V77L
c.229G>C
1 paper
NM_004360.5
p.V77L
c.229G>T
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