Varaico: Literature-Extracted Genetic Variants

Gene:LHFPL4

LHFPL4

14 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 one LHFP-like gene res...

Pfam Domains

L_HMGIC_fplaa 22–200UCSCLipoma HMGIC fusion partner-like protein

Gene Aliases

HGNC Name

LHFPL tetraspan subfamily member 4

HGNC Alias Symbol

GARLH4

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_198560.3
p.E6K
c.16G>A
1 paper
NM_198560.3
p.S8insFs
c.23dupC
1 paper
NM_198560.3
p.I28M
c.84C>G
1 paper
NM_198560.3
p.W46L
c.137G>T
1 paper
NM_198560.3
p.V51L
c.151G>T
1 paper
NM_198560.3
p.V51L
c.151G>C
1 paper
NM_198560.3
p.D83N
c.247G>A
1 paper
NM_198560.3
p.V99fs
c.295_296fs
1 paper
NM_198560.3
p.A152V
c.455C>T
1 paper
NM_198560.3
p.R174C
c.520C>T
1 paper
NM_198560.3
p.I182I
c.546C>T
1 paper
NM_198560.3
p.V196V
c.588G>A
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