Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.I250I

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.I250I
c.750C>T
Surrounding Variants
1 paper
NM_004360.5
p.T251fs
c.751_752fs
2 papers
NM_004360.5
p.T251S
c.751A>T
3 papers
NM_004360.5
p.I250N
c.749T>A
1 paper
NM_004360.5
p.I250T
c.749T>C
1 paper
NM_004360.5
p.I250S
c.749T>G
1 paper
NM_004360.5
p.I250delFs
c.750delC
1 paper
NM_004360.5
p.I250V
c.748A>G
2 papers
NM_004360.5
p.T251K
c.752C>A
10 papers
NM_004360.5
p.T251_V252insFs
c.753_754insG
3 papers
NM_004360.5
p.T251M
c.752C>T
1 paper
NM_004360.5
p.L249L
c.747G>A
1 paper
NM_004360.5
p.T251T
c.753G>A
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