Varaico: Literature-Extracted Genetic Variants

Gene:LIPN
Variant:p.H318R

LIPN

59 papers

RefSeq Summary

The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lame...

Pfam Domains

Abhydro_lipaseaa 36–98UCSCPartial alpha/beta-hydrolase lipase region

Gene Aliases

HGNC Name

lipase family member N

HGNC Previous Symbol

LIPL4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001102469.2
p.H318R
c.953A>G
Surrounding Variants
1 paper
NM_001102469.2
p.D312Y
c.934G>T
1 paper
NM_001102469.2
p.D308H
c.922G>C
1 paper
NM_001102469.2
p.N291N
c.873C>T
1 paper
NM_001102469.2
p.H282R
c.845A>G
1 paper
NM_001102469.2
p.S281L
c.842C>T
2 papers
NM_001102469.2
p.D370Y
c.1108G>T
1 paper
NM_001102469.2
p.G265*
c.793G>T
1 paper
NM_001102469.2
p.W263*
c.789G>A
1 paper
NM_001102469.2
p.W263*
c.788G>A
2 papers
NM_001102469.2
p.E258K
c.772G>A
1 paper
NM_001102469.2
p.C256R
c.766T>C
1 paper
NM_001102469.2
p.L254L
c.760T>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."