Varaico: Literature-Extracted Genetic Variants

Gene:LHFPL5
Variant:p.E217K

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.E217K
c.649G>A
Surrounding Variants
1 paper
NM_182548.4
p.E217*
c.649G>T
3 papers
NM_182548.4
p.E217delFs
c.649delG
1 paper
NM_182548.4
p.E217Splc
c.649+9C>T
1 paper
NM_182548.4
p.A213E
c.638C>A
1 paper
NM_182548.4
p.L207delFs
c.619delC
1 paper
NM_182548.4
p.R202Q
c.605G>A
1 paper
NM_182548.4
p.G200V
c.599G>T
1 paper
NM_182548.4
p.G200_R202del3
c.598_605del9
2 papers
NM_182548.4
p.V198M
c.592G>A
2 papers
NM_182548.4
p.L192P
c.575T>C
1 paper
NM_182548.4
p.A189T
c.565G>A
1 paper
NM_182548.4
p.A189S
c.565G>T
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