Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.V344A

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.V344A
c.1031T>C
Surrounding Variants
1 paper
NM_004360.5
p.V344E
c.1031T>A
2 papers
NM_004360.5
p.V344M
c.1030G>A
1 paper
NM_004360.5
p.V345insFs
c.1033_1034dupGT
1 paper
NM_004360.5
p.V345del1
c.1033_1034delGTT
2 papers
NM_004360.5
p.V345I
c.1033G>A
1 paper
NM_004360.5
p.L343L
c.1029G>C
2 papers
NM_004360.5
p.V344insFs
c.1031_1032dupTG
1 paper
NM_004360.5
p.V345fs
c.1033_1034fs
1 paper
NM_004360.5
p.L343Q
c.1028T>A
1 paper
NM_004360.5
p.V345D
c.1034T>A
3 papers
NM_004360.5
p.L343P
c.1028T>C
3 papers
NM_004360.5
p.V345A
c.1034T>C
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