Varaico: Literature-Extracted Genetic Variants

Gene:LHFPL5
Variant:p.G104S

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.G104S
c.310G>A
Surrounding Variants
1 paper
NM_182548.4
p.M105_G110delFs
c.314_329del16
1 paper
NM_182548.4
p.M98V
c.292A>G
1 paper
NM_182548.4
p.K95N
c.285G>C
1 paper
NM_182548.4
p.K95N
c.285G>T
3 papers
NM_182548.4
p.I112T
c.335T>C
1 paper
NM_182548.4
p.L117R
c.350T>G
2 papers
NM_182548.4
p.P90R
c.269C>G
3 papers
NM_182548.4
p.F86_S87del1
c.258_260delCTC
1 paper
NM_182548.4
p.N122S
c.365A>G
1 paper
NM_182548.4
p.L84fs
c.250_251fs
1 paper
NM_182548.4
p.P83fs
c.247_248fs
9 papers
NM_182548.4
p.L84delFs
c.250delC
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