Varaico: Literature-Extracted Genetic Variants

Gene:LIPN
Variant:p.E145Q

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.E145Q
c.433G>C
Surrounding Variants
1 paper
NM_001102469.2
p.F143S
c.428T>C
1 paper
NM_001102469.2
p.F143fs
c.427_428fs
1 paper
NM_001102469.2
p.K161R
c.482A>G
1 paper
NM_001102469.2
p.T162S
c.485C>G
1 paper
NM_001102469.2
p.G175D
c.524G>A
1 paper
NM_001102469.2
p.S142insFs
c.425_426ins4
2 papers
NM_001102469.2
p.E133fs
c.397_398fs
5 papers
NM_001102469.2
p.S132L
c.395C>T
3 papers
NM_001102469.2
p.E133_T134delFs
c.399_400delGA
1 paper
NM_001102469.2
p.R120Q
c.359G>A
1 paper
NM_001102469.2
p.G117E
c.350G>A
1 paper
NM_001102469.2
p.D109A
c.326A>C
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