Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.G278Splc

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.G278Splc
c.832+2T>A
Surrounding Variants
1 paper
NM_004360.5
p.G278Splc
c.832+2T>C
2 papers
NM_004360.5
p.G278Splc
c.832+3A>G
9 papers
NM_004360.5
p.G278Splc
c.832+1G>A
2 papers
NM_004360.5
p.G278Splc
c.832+1G>C
18 papers
NM_004360.5
p.G278Splc
c.832+1G>T
23 papers
NM_004360.5
p.G278R
c.832G>A
3 papers
NM_004360.5
p.G278R
c.832G>C
4 papers
NM_004360.5
p.G278*
c.832G>T
1 paper
NM_004360.5
p.G278Splc
c.832+6T>C
2 papers
NM_004360.5
p.P277fs
c.829_830fs
1 paper
NM_004360.5
p.P277_G278ins10
c.829_833ins30
1 paper
NM_004360.5
p.P277fs
c.829_830fs
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