Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.I594fs

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
3 papers
NM_004360.5
p.I594fs
c.1780_1781fs
Surrounding Variants
2 papers
NM_004360.5
p.I594insFs
c.1780_1781insC
2 papers
NM_004360.5
p.I594_P595insT
c.1780_1784ins3
3 papers
NM_004360.5
p.I594fs
c.1780_1781fs
1 paper
NM_004360.5
p.P593P
c.1779C>G
1 paper
NM_004360.5
p.I594M
c.1782A>G
1 paper
NM_004360.5
p.P593T
c.1777C>A
1 paper
NM_004360.5
p.P595insFs
c.1783_1784ins8
1 paper
NM_004360.5
p.P593fs
c.1777_1778fs
1 paper
NM_004360.5
p.P595fs
c.1783_1784fs
2 papers
NM_004360.5
p.P595S
c.1783C>T
1 paper
NM_004360.5
p.P593S
c.1777C>T
1 paper
NM_004360.5
p.P595R
c.1784C>G
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