Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.H233delFs

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.H233delFs
c.697_698delCA
Surrounding Variants
1 paper
NM_004360.5
p.H233N
c.697C>A
1 paper
NM_004360.5
p.H233insFs
c.697_698insA
3 papers
NM_004360.5
p.H233fs
c.697_698fs
5 papers
NM_004360.5
p.S232C
c.695C>G
1 paper
NM_004360.5
p.H233D
c.697C>G
4 papers
NM_004360.5
p.H233delins
c.697_698delinsTA
2 papers
NM_004360.5
p.H233fs
c.697_698fs
1 paper
NM_004360.5
p.H233L
c.698A>T
1 paper
NM_004360.5
p.S232P
c.694T>C
1 paper
NM_004360.5
p.S232_H233insAA
c.694_698ins6
3 papers
NM_004360.5
p.H233Q
c.699C>A
1 paper
NM_004360.5
p.F231_S232insFs
c.693_694insG
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