Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.L848insFs

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.L848insFs
c.2544dupG
Surrounding Variants
1 paper
NM_004360.5
p.N849del1
c.2545_2546delAAC
1 paper
NM_004360.5
p.N849fs
c.2545_2546fs
1 paper
NM_004360.5
p.N849D
c.2545A>G
1 paper
NM_004360.5
p.S847F
c.2540C>T
1 paper
NM_004360.5
p.N849_S850insFs
c.2547_2548insA
2 papers
NM_004360.5
p.S847A
c.2539T>G
1 paper
NM_004360.5
p.S847fs
c.2539_2540fs
1 paper
NM_004360.5
p.S850A
c.2548T>G
2 papers
NM_004360.5
p.S850fs
c.2548_2549fs
3 papers
NM_004360.5
p.S850delFs
c.2549_2550delCC
1 paper
NM_004360.5
p.S846T
c.2537G>C
1 paper
NM_004360.5
p.S846I
c.2537G>T
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