Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.H97D

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.H97D
c.289C>G
Surrounding Variants
2 papers
NM_004360.5
p.H97fs
c.289_290fs
1 paper
NM_004360.5
p.I96M
c.288C>G
2 papers
NM_004360.5
p.I96T
c.287T>C
1 paper
NM_004360.5
p.I96_H97insFs
c.288_289insC
1 paper
NM_004360.5
p.H97delFs
c.289delC
1 paper
NM_004360.5
p.F98_T106del9
c.292_317del27
1 paper
NM_004360.5
p.I96fs
c.286_287fs
1 paper
NM_004360.5
p.I96_H97insA
c.286_290ins3
9 papers
NM_004360.5
p.I96V
c.286A>G
4 papers
NM_004360.5
p.I96F
c.286A>T
1 paper
NM_004360.5
p.F98I
c.292T>A
1 paper
NM_004360.5
p.F98L
c.292T>C
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