Varaico: Literature-Extracted Genetic Variants

Gene:LHFPL5
Variant:p.Y127C

LHFPL5

80 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 this gene result in de...

Pfam Domains

L_HMGIC_fplaa 25–202UCSCLipoma HMGIC fusion partner-like protein

Gene Aliases

HGNC Name

LHFPL tetraspan subfamily member 5

HGNC Previous Symbol

DFNB67

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_182548.4
p.Y127C
c.380A>G
Surrounding Variants
1 paper
NM_182548.4
p.C130S
c.389G>C
1 paper
NM_182548.4
p.A131E
c.392C>A
1 paper
NM_182548.4
p.N122S
c.365A>G
1 paper
NM_182548.4
p.W132*
c.395G>A
1 paper
NM_182548.4
p.W132*
c.396G>A
1 paper
NM_182548.4
p.M133R
c.398T>G
1 paper
NM_182548.4
p.L117R
c.350T>G
1 paper
NM_182548.4
p.A137A
c.411G>A
1 paper
NM_182548.4
p.A137A
c.411G>C
2 papers
NM_182548.4
p.A138Splc
c.412+1G>A
1 paper
NM_182548.4
p.A138Splc
c.412+3A>C
3 papers
NM_182548.4
p.I112T
c.335T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."