Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.F601fs

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.F601fs
c.1801_1802fs
Surrounding Variants
3 papers
NM_004360.5
p.F601fs
c.1801_1802fs
1 paper
NM_004360.5
p.F602_C603del2
c.1804_1808del6
2 papers
NM_004360.5
p.I600K
c.1799T>A
1 paper
NM_004360.5
p.I600fs
c.1798_1799fs
1 paper
NM_004360.5
p.I600fs
c.1798_1799fs
3 papers
NM_004360.5
p.F602L
c.1804T>C
1 paper
NM_004360.5
p.F602fs
c.1804_1805fs
1 paper
NM_004360.5
p.F602S
c.1805T>C
3 papers
NM_004360.5
p.F602L
c.1806C>A
1 paper
NM_004360.5
p.T599N
c.1796C>A
1 paper
NM_004360.5
p.T599insFs
c.1797dupT
7 papers
NM_004360.5
p.T599S
c.1796C>G
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