Varaico: Literature-Extracted Genetic Variants

Gene:LHFPL1

LHFPL1

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 8–192UCSCLipoma HMGIC fusion partner-like protein

Gene Aliases

HGNC Name

LHFPL tetraspan subfamily member 1

HGNC Previous Name

lipoma HMGIC fusion partner like 1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
1 paper
NM_178175.4
p.M1T
c.2T>C
1 paper
NM_178175.4
p.F34L
c.100T>C
1 paper
NM_178175.4
p.F34L
c.102T>G
1 paper
NM_178175.4
p.F34L
c.102T>A
1 paper
NM_178175.4
p.G35*
c.103G>T
1 paper
NM_178175.4
p.K40N
c.120G>T
1 paper
NM_178175.4
p.K40N
c.120G>C
1 paper
NM_178175.4
p.R49fs
c.145_146fs
1 paper
NM_178175.4
p.V54M
c.160G>A
1 paper
NM_178175.4
p.C67F
c.200G>T
1 paper
NM_178175.4
p.R69C
c.205C>T
1 paper
NM_178175.4
p.R118H
c.353G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."