Varaico: Literature-Extracted Genetic Variants

Gene:LHFPL5
Variant:p.K80*

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.K80*
c.238A>T
Surrounding Variants
1 paper
NM_182548.4
p.G81D
c.242G>A
9 papers
NM_182548.4
p.L84delFs
c.250delC
1 paper
NM_182548.4
p.P83fs
c.247_248fs
1 paper
NM_182548.4
p.L77F
c.229C>T
1 paper
NM_182548.4
p.L84fs
c.250_251fs
3 papers
NM_182548.4
p.F86_S87del1
c.258_260delCTC
2 papers
NM_182548.4
p.P90R
c.269C>G
1 paper
NM_182548.4
p.C68*
c.204C>A
3 papers
NM_182548.4
p.Y67C
c.200A>G
1 paper
NM_182548.4
p.Y67D
c.199T>G
1 paper
NM_182548.4
p.S66F
c.197C>T
1 paper
NM_182548.4
p.Y67del1
c.199_200delTAC
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