Varaico: Literature-Extracted Genetic Variants

Gene:LHFPL5

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
1–12 of 92 variants
11 papers
NM_182548.4
p.Y127C
c.380A>G
10 papers
NM_182548.4
p.T165M
c.494C>T
9 papers
NM_182548.4
p.L84delFs
c.250delC
7 papers
NM_182548.4
p.R158W
c.472C>T
6 papers
NM_182548.4
p.C161F
c.482G>T
4 papers
NM_182548.4
p.G30insFs
c.89dupG
4 papers
NM_182548.4
p.C173S
c.517T>A
4 papers
NM_182548.4
p.C173S
c.518G>C
4 papers
NM_182548.4
p.R176C
c.526C>T
3 papers
NM_182548.4
p.M1V
c.1A>G
3 papers
NM_182548.4
p.Y67C
c.200A>G
3 papers
NM_182548.4
p.F86_S87del1
c.258_260delCTC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."