Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.G759*

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
11 papers
NM_004360.5
p.G759*
c.2275G>T
Surrounding Variants
2 papers
NM_004360.5
p.G759R
c.2275G>A
1 paper
NM_004360.5
p.G759fs
c.2275_2276fs
12 papers
NM_004360.5
p.G759delFs
c.2276delG
1 paper
NM_004360.5
p.G759E
c.2276G>A
1 paper
NM_004360.5
p.G759A
c.2276G>C
1 paper
NM_004360.5
p.E758G
c.2273A>G
2 papers
NM_004360.5
p.E758K
c.2272G>A
1 paper
NM_004360.5
p.G760S
c.2278G>A
2 papers
NM_004360.5
p.G760R
c.2278G>C
1 paper
NM_004360.5
p.E758Q
c.2272G>C
3 papers
NM_004360.5
p.E758*
c.2272G>T
1 paper
NM_004360.5
p.E757D
c.2271A>C
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