Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.L705fs

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
2 papers
NM_004360.5
p.L705fs
c.2113_2114fs
Surrounding Variants
4 papers
NM_004360.5
p.L705delFs
c.2114delT
1 paper
NM_004360.5
p.L705*
c.2114T>A
1 paper
NM_004360.5
p.Q706delFs
c.2116delC
1 paper
NM_004360.5
p.Q706E
c.2116C>G
7 papers
NM_004360.5
p.Q706*
c.2116C>T
1 paper
NM_004360.5
p.Q706delFs
c.2117delA
1 paper
NM_004360.5
p.G704fs
c.2110_2111fs
1 paper
NM_004360.5
p.I707fs
c.2119_2120fs
1 paper
NM_004360.5
p.I707delFs
c.2121delT
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.E702G
c.2105A>G
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