Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.F338L

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.F338L
c.1012T>C
Surrounding Variants
2 papers
NM_004360.5
p.F338fs
c.1012_1013fs
1 paper
NM_004360.5
p.S337R
c.1011T>A
1 paper
NM_004360.5
p.S337R
c.1011T>G
1 paper
NM_004360.5
p.P339delFs
c.1016delC
1 paper
NM_004360.5
p.F338L
c.1014C>A
1 paper
NM_004360.5
p.F338L
c.1014C>G
3 papers
NM_004360.5
p.S337N
c.1010G>A
1 paper
NM_004360.5
p.S337T
c.1010G>C
1 paper
NM_004360.5
p.S337insFs
c.1010_1011insA
1 paper
NM_004360.5
p.F338insFs
c.1013_1014insT
1 paper
NM_004360.5
p.F338delFs
c.1013delT
1 paper
NM_004360.5
p.S337_F338delFs
c.1011_1012delTT
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