Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.D766fs

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.D766fs
c.2296_2297fs
Surrounding Variants
1 paper
NM_004360.5
p.D766_F767insA
c.2296_2300ins3
3 papers
NM_004360.5
p.Q765_D766Splc
c.2296-1G>A
5 papers
NM_004360.5
p.Q765_D766Splc
c.2296-2A>G
3 papers
NM_004360.5
p.Q765_D766Splc
c.2296-3A>G
1 paper
NM_004360.5
p.Q765_D766Splc
c.2296-4A>G
2 papers
NM_004360.5
p.F767S
c.2300T>C
1 paper
NM_004360.5
p.D768N
c.2302G>A
1 paper
NM_004360.5
p.S770_L772del3
c.2308_2315del9
3 papers
NM_004360.5
p.L769*
c.2306T>A
1 paper
NM_004360.5
p.L769F
c.2307G>C
1 paper
NM_004360.5
p.L769F
c.2307G>T
1 paper
NM_004360.5
p.S770G
c.2308A>G
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