Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.L21V

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
7 papers
NM_004360.5
p.L21V
c.61C>G
Surrounding Variants
1 paper
NM_004360.5
p.L21I
c.61C>A
3 papers
NM_004360.5
p.L21fs
c.61_62fs
20 papers
NM_004360.5
p.W20*
c.60G>A
1 paper
NM_004360.5
p.W20C
c.60G>C
1 paper
NM_004360.5
p.W20C
c.60G>T
1 paper
NM_004360.5
p.L21P
c.62T>C
4 papers
NM_004360.5
p.L21_C22insFs
c.63_64ins13
1 paper
NM_004360.5
p.L21delins
c.63delinsCGTGCCCCAGCCC
5 papers
NM_004360.5
p.L21L
c.63C>A
30 papers
NM_004360.5
p.W20*
c.59G>A
1 paper
NM_004360.5
p.W20insFs
c.59_60ins8
1 paper
NM_004360.5
p.W20L
c.59G>T
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