Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.P804A

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.P804A
c.2410C>G
Surrounding Variants
1 paper
NM_004360.5
p.P804L
c.2411C>T
1 paper
NM_004360.5
p.N803D
c.2407A>G
26 papers
NM_004360.5
p.D805N
c.2413G>A
1 paper
NM_004360.5
p.D805V
c.2414A>T
1 paper
NM_004360.5
p.D805D
c.2415T>C
4 papers
NM_004360.5
p.E806K
c.2416G>A
5 papers
NM_004360.5
p.E806*
c.2416G>T
1 paper
NM_004360.5
p.A802delFs
c.2405_2406delCC
1 paper
NM_004360.5
p.E806G
c.2417A>G
1 paper
NM_004360.5
p.P801P
c.2403T>A
1 paper
NM_004360.5
p.P801H
c.2402C>A
1 paper
NM_004360.5
p.P801R
c.2402C>G
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