Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.V344insFs

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
2 papers
NM_004360.5
p.V344insFs
c.1031_1032dupTG
Surrounding Variants
1 paper
NM_004360.5
p.L343L
c.1029G>C
2 papers
NM_004360.5
p.V344M
c.1030G>A
1 paper
NM_004360.5
p.L343Q
c.1028T>A
3 papers
NM_004360.5
p.L343P
c.1028T>C
2 papers
NM_004360.5
p.L343R
c.1028T>G
1 paper
NM_004360.5
p.L343M
c.1027C>A
4 papers
NM_004360.5
p.L343fs
c.1027_1028fs
1 paper
NM_004360.5
p.L343L
c.1027C>T
1 paper
NM_004360.5
p.L343delins
c.1027_1028delinsGG
1 paper
NM_004360.5
p.V344_V345del1
c.1031_1033delTGG
1 paper
NM_004360.5
p.V344E
c.1031T>A
1 paper
NM_004360.5
p.V344A
c.1031T>C
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