Varaico: Literature-Extracted Genetic Variants

Gene:LHFPL5
Variant:p.I13L

LHFPL5

80 papers

RefSeq Summary

This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in de...

Pfam Domains

L_HMGIC_fplaa 25–202UCSCLipoma HMGIC fusion partner-like protein

Gene Aliases

HGNC Name

LHFPL tetraspan subfamily member 5

HGNC Previous Symbol

DFNB67

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_182548.4
p.I13L
c.37A>C
Surrounding Variants
1 paper
NM_182548.4
p.K12*
c.34A>T
2 papers
NM_182548.4
p.H15Y
c.43C>T
1 paper
NM_182548.4
p.E9G
c.26A>G
1 paper
NM_182548.4
p.Y18C
c.53A>G
1 paper
NM_182548.4
p.V19insFs
c.56_57insG
1 paper
NM_182548.4
p.N21insFs
c.61_62insC
3 papers
NM_182548.4
p.M1V
c.1A>G
1 paper
NM_182548.4
p.V25M
c.73G>A
1 paper
NM_182548.4
p.M28I
c.84G>A
1 paper
NM_182548.4
p.M28I
c.84G>C
1 paper
NM_182548.4
p.M28I
c.84G>T
4 papers
NM_182548.4
p.G30insFs
c.89dupG
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