Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.V794fs

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.V794fs
c.2380_2381fs
Surrounding Variants
1 paper
NM_004360.5
p.V794insFs
c.2380_2381insC
1 paper
NM_004360.5
p.S793R
c.2379T>A
1 paper
NM_004360.5
p.S793R
c.2379T>G
21 papers
NM_004360.5
p.R796insFs
c.2386dupC
7 papers
NM_004360.5
p.R796delFs
c.2386delC
1 paper
NM_004360.5
p.S793R
c.2377A>C
1 paper
NM_004360.5
p.P795T
c.2383C>A
1 paper
NM_004360.5
p.P795A
c.2383C>G
1 paper
NM_004360.5
p.R796_A802delFs
c.2387_2406del20
2 papers
NM_004360.5
p.R796fs
c.2386_2387fs
4 papers
NM_004360.5
p.R796fs
c.2386_2387fs
8 papers
NM_004360.5
p.R796Q
c.2387G>A
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