Varaico: Literature-Extracted Genetic Variants

LHFPL3

20 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 36–213UCSCLipoma HMGIC fusion partner-like protein

Gene Aliases

HGNC Name

LHFPL tetraspan subfamily member 3

HGNC Previous Names

lipoma HMGIC fusion partner-like 4; lipoma HMGIC fusion partner-like 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_199000.3

p.F43L

c.127T>C

Surrounding Variants

1 paper

NM_199000.3

p.F43L

c.129C>A

1 paper

NM_199000.3

p.F43L

c.129C>G

1 paper

NM_199000.3

p.A41V

c.122C>T

1 paper

NM_199000.3

p.I36I

c.108C>A

1 paper

NM_199000.3

p.N51N

c.153C>T

1 paper

NM_199000.3

p.I61I

c.183A>C

1 paper

NM_199000.3

p.L24M

c.70C>A

1 paper

NM_199000.3

p.G64G

c.192C>T

1 paper

NM_199000.3

p.A10_A21del12

c.28_62del36

2 papers

NM_199000.3

p.I80M

c.240C>G

1 paper

NM_199000.3

p.A4_A7del4

c.10_20del12

1 paper

NM_199000.3

p.G83S

c.247G>A