Varaico: Literature-Extracted Genetic Variants

Gene:LIPN
Variant:p.L22F

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.L22F
c.64C>T
Surrounding Variants
1 paper
NM_001102469.2
p.T36I
c.107C>T
1 paper
NM_001102469.2
p.L5V
c.13C>G
1 paper
NM_001102469.2
p.I59insFs
c.175dupA
1 paper
NM_001102469.2
p.L61F
c.181C>T
1 paper
NM_001102469.2
p.I65S
c.194T>G
1 paper
NM_001102469.2
p.R69*
c.205C>T
2 papers
NM_001102469.2
p.Y98F
c.293A>T
3 papers
NM_001102469.2
p.G101delFs
c.302delG
2 papers
NM_001102469.2
p.G101fs
c.301_302fs
1 paper
NM_001102469.2
p.D109A
c.326A>C
1 paper
NM_001102469.2
p.G117E
c.350G>A
1 paper
NM_001102469.2
p.R120Q
c.359G>A
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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."