Varaico: Literature-Extracted Genetic Variants

Gene:LHFPL5
Variant:p.Y67del1

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
1 paper
NM_182548.4
p.Y67del1
c.199_200delTAC
Surrounding Variants
1 paper
NM_182548.4
p.S66F
c.197C>T
1 paper
NM_182548.4
p.Y67D
c.199T>G
3 papers
NM_182548.4
p.Y67C
c.200A>G
1 paper
NM_182548.4
p.L64P
c.191T>C
1 paper
NM_182548.4
p.C68*
c.204C>A
2 papers
NM_182548.4
p.G63R
c.187G>C
1 paper
NM_182548.4
p.F62fs
c.184_185fs
1 paper
NM_182548.4
p.F62delFs
c.185delT
1 paper
NM_182548.4
p.A59T
c.175G>A
1 paper
NM_182548.4
p.Q58R
c.173A>G
1 paper
NM_182548.4
p.L77F
c.229C>T
1 paper
NM_182548.4
p.V54I
c.160G>A
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