Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.E26Q

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.E26Q
c.76G>C
Surrounding Variants
2 papers
NM_004360.5
p.E26K
c.76G>A
3 papers
NM_004360.5
p.E26fs
c.76_77fs
7 papers
NM_004360.5
p.E26*
c.76G>T
1 paper
NM_004360.5
p.P25P
c.75G>A
1 paper
NM_004360.5
p.P25_E26insFs
c.75_76insA
1 paper
NM_004360.5
p.P25insFs
c.74_75insG
2 papers
NM_004360.5
p.P25L
c.74C>T
1 paper
NM_004360.5
p.E26D
c.78G>C
2 papers
NM_004360.5
p.E26_P27insFs
c.78_79insC
1 paper
NM_004360.5
p.P27delFs
c.81delC
1 paper
NM_004360.5
p.P27delFs
c.80_81delCC
1 paper
NM_004360.5
p.P27_H29delFs
c.79_85del7
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