Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.L798L

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.L798L
c.2394T>C
Surrounding Variants
45 papers
NM_004360.5
p.R800delFs
c.2398delC
1 paper
NM_004360.5
p.P799fs
c.2395_2396fs
3 papers
NM_004360.5
p.P799S
c.2395C>T
25 papers
NM_004360.5
p.P799R
c.2396C>G
2 papers
NM_004360.5
p.L798V
c.2392C>G
5 papers
NM_004360.5
p.L798F
c.2392C>T
1 paper
NM_004360.5
p.P799L
c.2396C>T
1 paper
NM_004360.5
p.Y797*
c.2391T>A
1 paper
NM_004360.5
p.Y797*
c.2391T>G
4 papers
NM_004360.5
p.Y797C
c.2390A>G
2 papers
NM_004360.5
p.R800fs
c.2398_2399fs
3 papers
NM_004360.5
p.R800C
c.2398C>T
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