Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.R74insFs

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.R74insFs
c.220dupC
Surrounding Variants
1 paper
NM_004360.5
p.D72D
c.216C>T
1 paper
NM_004360.5
p.D72A
c.215A>C
1 paper
NM_004360.5
p.D72V
c.215A>T
1 paper
NM_004360.5
p.D72Fs
c.214_216delinsGGFs
1 paper
NM_004360.5
p.R74insFs
c.221dupG
2 papers
NM_004360.5
p.R74fs
c.220_221fs
1 paper
NM_004360.5
p.R74_F75insG
c.220_224ins3
25 papers
NM_004360.5
p.R74*
c.220C>T
7 papers
NM_004360.5
p.D72N
c.214G>A
2 papers
NM_004360.5
p.D72fs
c.214_215fs
1 paper
NM_004360.5
p.L71_D72insFs
c.213_214insT
2 papers
NM_004360.5
p.L71L
c.213C>T
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