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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LHFPL2

Variant:p.A156S

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr5:78489118 C>A

NM_005779.3

p.A156S

c.466G>T

L_HMGIC_fpl

exact variant not in gnomAD85 overlapping SVs

Surrounding Variants

1 paper

chr5:78489067 C>T

NM_005779.3

p.A173T

c.517G>A

L_HMGIC_fpl

exact variant not in gnomAD85 overlapping SVs

1 paper

chr5:78489022 C>T

NM_005779.3

p.A188T

c.562G>A

L_HMGIC_fpl

Exome: 0.2% (AC=2984, hom=9)Genome: 0.2% (AC=246, hom=1)85 overlapping SVs

1 paper

chr5:78488915 A>G

NM_005779.3

p.N223N

c.669T>C

Exome: 74.8% (AC=1092432, hom=411712)Genome: 77.2% (AC=117538, hom=46115)85 overlapping SVs

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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."