Varaico: Literature-Extracted Genetic Variants

Gene:LIPN

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
1–12 of 46 variants
5 papers
NM_001102469.2
p.S132L
c.395C>T
3 papers
NM_001102469.2
p.G101delFs
c.302delG
3 papers
NM_001102469.2
p.E133_T134delFs
c.399_400delGA
3 papers
NM_001102469.2
p.G210D
c.629G>A
3 papers
NM_001102469.2
p.T244N
c.731C>A
2 papers
NM_001102469.2
p.Y98F
c.293A>T
2 papers
NM_001102469.2
p.G101fs
c.301_302fs
2 papers
NM_001102469.2
p.E133fs
c.397_398fs
2 papers
NM_001102469.2
p.E258K
c.772G>A
2 papers
NM_001102469.2
p.D370Y
c.1108G>T
1 paper
NM_001102469.2
p.L5V
c.13C>G
1 paper
NM_001102469.2
p.L22F
c.64C>T
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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."