Varaico: Literature-Extracted Genetic Variants

Gene:LIPN
Variant:p.C256R

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.C256R
c.766T>C
Surrounding Variants
2 papers
NM_001102469.2
p.E258K
c.772G>A
1 paper
NM_001102469.2
p.L254L
c.760T>C
1 paper
NM_001102469.2
p.L252F
c.754C>T
1 paper
NM_001102469.2
p.K250N
c.750G>C
1 paper
NM_001102469.2
p.K250N
c.750G>T
1 paper
NM_001102469.2
p.W263*
c.788G>A
1 paper
NM_001102469.2
p.W263*
c.789G>A
1 paper
NM_001102469.2
p.G265*
c.793G>T
1 paper
NM_001102469.2
p.I246L
c.736A>C
3 papers
NM_001102469.2
p.T244N
c.731C>A
1 paper
NM_001102469.2
p.G228A
c.683G>C
1 paper
NM_001102469.2
p.I211M
c.633T>G
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