Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.P30T

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
49 papers
NM_004360.5
p.P30T
c.88C>A
Surrounding Variants
1 paper
NM_004360.5
p.P30fs
c.88_89fs
1 paper
NM_004360.5
p.H29Q
c.87C>A
2 papers
NM_004360.5
p.H29Q
c.87C>G
2 papers
NM_004360.5
p.P30R
c.89C>G
3 papers
NM_004360.5
p.P30_F32del3
c.88_95del9
5 papers
NM_004360.5
p.H29R
c.86A>G
1 paper
NM_004360.5
p.H29_P30Fs
c.86_89delinsGTGFs
1 paper
NM_004360.5
p.G31delFs
c.92delG
2 papers
NM_004360.5
p.H29insFs
c.86dupA
2 papers
NM_004360.5
p.H29fs
c.85_86fs
1 paper
NM_004360.5
p.G31S
c.91G>A
1 paper
NM_004360.5
p.G31fs
c.91_92fs
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