Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.V235M

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.V235M
c.703G>A
Surrounding Variants
2 papers
NM_004360.5
p.V235L
c.703G>C
1 paper
NM_004360.5
p.V235fs
c.703_704fs
1 paper
NM_004360.5
p.V235L
c.703G>T
1 paper
NM_004360.5
p.V235E
c.704T>A
1 paper
NM_004360.5
p.V235delFs
c.703delG
1 paper
NM_004360.5
p.V235delFs
c.705delG
1 paper
NM_004360.5
p.A234D
c.701C>A
1 paper
NM_004360.5
p.A234P
c.700G>C
1 paper
NM_004360.5
p.A234fs
c.700_701fs
1 paper
NM_004360.5
p.A234delins
c.700_701delinsCG
1 paper
NM_004360.5
p.S236_V242del0
c.707_724del18
5 papers
NM_004360.5
p.S236*
c.707C>A
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