Varaico: Literature-Extracted Genetic Variants

Gene:LHFPL2

LHFPL2

13 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 9–204UCSCLipoma HMGIC fusion partner-like protein

Gene Aliases

HGNC Name

LHFPL tetraspan subfamily member 2

HGNC Alias Symbol

KIAA0206

Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
1 paper
NM_005779.3
p.S30I
c.89G>T
1 paper
NM_005779.3
p.V44L
c.130G>T
1 paper
NM_005779.3
p.V44L
c.130G>C
1 paper
NM_005779.3
p.R41_G43del0
c.121_129del9
1 paper
NM_005779.3
p.H58L
c.173A>T
1 paper
NM_005779.3
p.R66S
c.196C>A
1 paper
NM_005779.3
p.V73M
c.217G>A
1 paper
NM_005779.3
p.I102V
c.304A>G
1 paper
NM_005779.3
p.I108V
c.322A>G
1 paper
NM_005779.3
p.I132fs
c.394_395fs
1 paper
NM_005779.3
p.S131_I132delFs
c.391_394del4
1 paper
NM_005779.3
p.A156S
c.466G>T
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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."