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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LHFPL4

Variant:p.R174C

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr3:9506090 G>A

NM_198560.3

p.R174C

c.520C>T

L_HMGIC_fpl

Exome: 0.0% (AC=1, hom=0)Genome: n/a23 overlapping SVs

Surrounding Variants

1 paper

chr3:9506064 G>A

NM_198560.3

p.I182I

c.546C>T

L_HMGIC_fpl

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=1, hom=0)23 overlapping SVs

1 paper

chr3:9506155 G>A

NM_198560.3

p.A152V

c.455C>T

L_HMGIC_fpl

exact variant not in gnomAD23 overlapping SVs

1 paper

chr3:9506022 C>T

NM_198560.3

p.V196V

c.588G>A

L_HMGIC_fpl

Exome: 0.0% (AC=3, hom=0)Genome: n/a23 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."