Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.G324R

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.G324R
c.970G>C
Surrounding Variants
2 papers
NM_004360.5
p.G324R
c.970G>A
5 papers
NM_004360.5
p.G324fs
c.970_971fs
1 paper
NM_004360.5
p.G324*
c.970G>T
2 papers
NM_004360.5
p.G324fs
c.970_971fs
1 paper
NM_004360.5
p.G324insFs
c.970dupG
4 papers
NM_004360.5
p.G324delFs
c.971delG
1 paper
NM_004360.5
p.G324A
c.971G>C
1 paper
NM_004360.5
p.G324_I326Fs
c.970_978delinsGTFs
1 paper
NM_004360.5
p.T323R
c.968C>G
1 paper
NM_004360.5
p.T323I
c.968C>T
2 papers
NM_004360.5
p.V325I
c.973G>A
1 paper
NM_004360.5
p.V325F
c.973G>T
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