Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.P339delFs

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.P339delFs
c.1016delC
Surrounding Variants
1 paper
NM_004360.5
p.F338L
c.1014C>A
1 paper
NM_004360.5
p.F338L
c.1014C>G
1 paper
NM_004360.5
p.F338L
c.1012T>C
2 papers
NM_004360.5
p.F338fs
c.1012_1013fs
3 papers
NM_004360.5
p.P339fs
c.1015_1016fs
2 papers
NM_004360.5
p.P339S
c.1015C>T
1 paper
NM_004360.5
p.P339Fs
c.1015_1016delinsTFs
1 paper
NM_004360.5
p.P339fs
c.1015_1016fs
1 paper
NM_004360.5
p.S337R
c.1011T>A
1 paper
NM_004360.5
p.S337R
c.1011T>G
1 paper
NM_004360.5
p.P339L
c.1016C>T
1 paper
NM_004360.5
p.T340_T342del0
c.1020_1025del6
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