Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.V701fs

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.V701fs
c.2101_2102fs
Surrounding Variants
1 paper
NM_004360.5
p.V701V
c.2103C>T
5 papers
NM_004360.5
p.P700delFs
c.2100delT
1 paper
NM_004360.5
p.P700S
c.2098C>T
10 papers
NM_004360.5
p.E702K
c.2104G>A
4 papers
NM_004360.5
p.E702*
c.2104G>T
1 paper
NM_004360.5
p.E702G
c.2105A>G
1 paper
NM_004360.5
p.Q699delFs
c.2097delG
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.A703T
c.2107G>A
1 paper
NM_004360.5
p.A703insFs
c.2108_2109insCC
1 paper
NM_004360.5
p.A698T
c.2092G>A
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