Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.G269fs

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.G269fs
c.805_806fs
Surrounding Variants
1 paper
NM_004360.5
p.G269R
c.805G>A
1 paper
NM_004360.5
p.G269W
c.805G>T
1 paper
NM_004360.5
p.K268R
c.803A>G
1 paper
NM_004360.5
p.K268M
c.803A>T
1 paper
NM_004360.5
p.K268E
c.802A>G
1 paper
NM_004360.5
p.K268*
c.802A>T
2 papers
NM_004360.5
p.S270P
c.808T>C
24 papers
NM_004360.5
p.S270A
c.808T>G
1 paper
NM_004360.5
p.S270fs
c.808_809fs
1 paper
NM_004360.5
p.S270Y
c.809C>A
1 paper
NM_004360.5
p.S270S
c.810T>G
1 paper
NM_004360.5
p.V271I
c.811G>A
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