Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.L13L

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.L13L
c.37C>T
Surrounding Variants
1 paper
NM_004360.5
p.L13M
c.37C>A
1 paper
NM_004360.5
p.L12L
c.36G>T
1 paper
NM_004360.5
p.L13_L15delFs
c.39_45del7
3 papers
NM_004360.5
p.L13L
c.39G>T
1 paper
NM_004360.5
p.L14M
c.40C>A
1 paper
NM_004360.5
p.L12V
c.34C>G
1 paper
NM_004360.5
p.L14V
c.40C>G
2 papers
NM_004360.5
p.L12L
c.34C>T
1 paper
NM_004360.5
p.L14L
c.40C>T
9 papers
NM_004360.5
p.L14delFs
c.41delT
1 paper
NM_004360.5
p.L14fs
c.40_41fs
1 paper
NM_004360.5
p.L11delins
c.33delinsATCA
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