Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.F231delFs

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.F231delFs
c.693delC
Surrounding Variants
1 paper
NM_004360.5
p.F231S
c.692T>C
1 paper
NM_004360.5
p.F231_S232insFs
c.693_694insG
2 papers
NM_004360.5
p.F231fs
c.691_692fs
2 papers
NM_004360.5
p.S232_H233delFs
c.696_697delTC
1 paper
NM_004360.5
p.F231insFs
c.692_693insT
1 paper
NM_004360.5
p.L230L
c.690C>T
1 paper
NM_004360.5
p.F231_G239del9
c.691_716del27
1 paper
NM_004360.5
p.S232P
c.694T>C
1 paper
NM_004360.5
p.S232_H233insAA
c.694_698ins6
5 papers
NM_004360.5
p.S232C
c.695C>G
1 paper
NM_004360.5
p.L230H
c.689T>A
1 paper
NM_004360.5
p.L230P
c.689T>C
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