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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LHFPL4

Variant:p.S8insFs

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

chr3:9552655 T>TG

NM_198560.3

p.S8insFs

c.23dupC

exact variant not in gnomAD22 overlapping SVs

Surrounding Variants

1 paper

chr3:9552664 C>T

NM_198560.3

p.E6K

c.16G>A

exact variant not in gnomAD22 overlapping SVs

1 paper

chr3:9552596 G>C

NM_198560.3

p.I28M

c.84C>G

L_HMGIC_fpl

exact variant not in gnomAD22 overlapping SVs

1 paper

chr3:9552543 C>A

NM_198560.3

p.W46L

c.137G>T

L_HMGIC_fpl

exact variant not in gnomAD22 overlapping SVs

1 paper

chr3:9552529 C>A

NM_198560.3

p.V51L

c.151G>T

L_HMGIC_fpl

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=1, hom=0)22 overlapping SVs

1 paper

chr3:9552529 C>G

NM_198560.3

p.V51L

c.151G>C

L_HMGIC_fpl

Exome: 0.0% (AC=1, hom=0)Genome: n/a22 overlapping SVs

1 paper

chr3:9552433 C>T

NM_198560.3

p.D83N

c.247G>A

L_HMGIC_fpl

exact variant not in gnomAD22 overlapping SVs

1 paper

chr3:9552383 C>CN

NM_198560.3

p.V99fs

c.295_296fs

L_HMGIC_fpl

exact variant not in gnomAD22 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."