Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.G579R

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.G579R
c.1735G>A
Surrounding Variants
1 paper
NM_004360.5
p.G579R
c.1735G>C
2 papers
NM_004360.5
p.G579fs
c.1735_1736fs
1 paper
NM_004360.5
p.G579fs
c.1735_1736fs
1 paper
NM_004360.5
p.T580_L581del2
c.1738_1742del6
4 papers
NM_004360.5
p.T578insFs
c.1733dupC
1 paper
NM_004360.5
p.T578fs
c.1732_1733fs
1 paper
NM_004360.5
p.T580A
c.1738A>G
1 paper
NM_004360.5
p.T580S
c.1738A>T
2 papers
NM_004360.5
p.T578delFs
c.1733delC
1 paper
NM_004360.5
p.T578fs
c.1732_1733fs
1 paper
NM_004360.5
p.T580K
c.1739C>A
1 paper
NM_004360.5
p.T580I
c.1739C>T
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