Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.A698T

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.A698T
c.2092G>A
Surrounding Variants
1 paper
NM_004360.5
p.A698P
c.2092G>C
1 paper
NM_004360.5
p.K697K
c.2091G>A
1 paper
NM_004360.5
p.K697N
c.2091G>C
1 paper
NM_004360.5
p.K697N
c.2091G>T
1 paper
NM_004360.5
p.K697fs
c.2089_2090fs
1 paper
NM_004360.5
p.K697_A698insA
c.2089_2093ins3
32 papers
NM_004360.5
p.Q699*
c.2095C>T
1 paper
NM_004360.5
p.Q699fs
c.2095_2096fs
1 paper
NM_004360.5
p.Q699delFs
c.2097delG
1 paper
NM_004360.5
p.K697delFs
c.2089delA
1 paper
NM_004360.5
p.R696K
c.2087G>A
1 paper
NM_004360.5
p.R696fs
c.2086_2087fs
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