Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.E261Q

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.E261Q
c.781G>C
Surrounding Variants
1 paper
NM_004360.5
p.E261K
c.781G>A
1 paper
NM_004360.5
p.E261fs
c.781_782fs
10 papers
NM_004360.5
p.E261*
c.781G>T
1 paper
NM_004360.5
p.E261G
c.782A>G
1 paper
NM_004360.5
p.E261V
c.782A>T
1 paper
NM_004360.5
p.P260P
c.780C>A
1 paper
NM_004360.5
p.P260P
c.780C>G
1 paper
NM_004360.5
p.E261delFs
c.781delG
6 papers
NM_004360.5
p.P260H
c.779C>A
1 paper
NM_004360.5
p.P260ins10
c.779_780ins30
4 papers
NM_004360.5
p.P260R
c.779C>G
3 papers
NM_004360.5
p.P260L
c.779C>T
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