Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.V284F

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.V284F
c.850G>T
Surrounding Variants
1 paper
NM_004360.5
p.V284I
c.850G>A
1 paper
NM_004360.5
p.V284L
c.850G>C
1 paper
NM_004360.5
p.V284fs
c.850_851fs
1 paper
NM_004360.5
p.E283D
c.849G>T
1 paper
NM_004360.5
p.V284delFs
c.852delC
1 paper
NM_004360.5
p.V284_T285delFs
c.852_853delCA
2 papers
NM_004360.5
p.E283G
c.848A>G
1 paper
NM_004360.5
p.E283delFs
c.849delG
1 paper
NM_004360.5
p.T285fs
c.853_854fs
1 paper
NM_004360.5
p.E283Q
c.847G>C
1 paper
NM_004360.5
p.E283fs
c.847_848fs
2 papers
NM_004360.5
p.E283*
c.847G>T
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