Varaico: Literature-Extracted Genetic Variants

Gene:LHFPL5
Variant:p.C161F

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
6 papers
NM_182548.4
p.C161F
c.482G>T
Surrounding Variants
7 papers
NM_182548.4
p.R158W
c.472C>T
10 papers
NM_182548.4
p.T165M
c.494C>T
1 paper
NM_182548.4
p.G166S
c.496G>A
1 paper
NM_182548.4
p.Y168*
c.504C>A
1 paper
NM_182548.4
p.Y168*
c.504C>G
1 paper
NM_182548.4
p.D153N
c.457G>A
2 papers
NM_182548.4
p.G151V
c.452G>T
4 papers
NM_182548.4
p.C173S
c.517T>A
4 papers
NM_182548.4
p.C173S
c.518G>C
1 paper
NM_182548.4
p.Y148C
c.443A>G
1 paper
NM_182548.4
p.I175T
c.524T>C
4 papers
NM_182548.4
p.R176C
c.526C>T
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