Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.K259E

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.K259E
c.775A>G
Surrounding Variants
1 paper
NM_004360.5
p.K259_K268del0
c.775_804del30
1 paper
NM_004360.5
p.K259N
c.777G>T
1 paper
NM_004360.5
p.N258D
c.772A>G
4 papers
NM_004360.5
p.P260T
c.778C>A
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
3 papers
NM_004360.5
p.D257A
c.770A>C
8 papers
NM_004360.5
p.D257G
c.770A>G
4 papers
NM_004360.5
p.D257V
c.770A>T
1 paper
NM_004360.5
p.P260P
c.780C>A
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