Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.A788fs

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.A788fs
c.2362_2363fs
Surrounding Variants
1 paper
NM_004360.5
p.A788fs
c.2362_2363fs
3 papers
NM_004360.5
p.A788V
c.2363C>T
1 paper
NM_004360.5
p.P789insFs
c.2366dupC
1 paper
NM_004360.5
p.V787A
c.2360T>C
1 paper
NM_004360.5
p.P789S
c.2365C>T
4 papers
NM_004360.5
p.V787I
c.2359G>A
1 paper
NM_004360.5
p.V787F
c.2359G>T
1 paper
NM_004360.5
p.D786D
c.2358C>T
1 paper
NM_004360.5
p.T790fs
c.2368_2369fs
1 paper
NM_004360.5
p.T790A
c.2368A>G
1 paper
NM_004360.5
p.T790fs
c.2368_2369fs
1 paper
NM_004360.5
p.D786N
c.2356G>A
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