Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA1
Variant:p.P163L

PNPLA1

108 papers

RefSeq Summary

The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have divers...

Pfam Domains

Patatinaa 16–182UCSCPatatin-like phospholipase

Gene Aliases

HGNC Name

patatin like domain 1, omega-hydroxyceramide transacylase

HGNC Alias Symbols

FLJ38755; dJ50J22.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_001374623.1
p.P163L
c.488C>T
Surrounding Variants
1 paper
NM_001374623.1
p.P163T
c.487C>A
2 papers
NM_001374623.1
p.P162R
c.485C>G
1 paper
NM_001374623.1
p.I161delFs
c.483delC
1 paper
NM_001374623.1
p.I161fs
c.481_482fs
4 papers
NM_001374623.1
p.R166C
c.496C>T
1 paper
NM_001374623.1
p.R166H
c.497G>A
1 paper
NM_001374623.1
p.G167V
c.500G>T
1 paper
NM_001374623.1
p.C158S
c.473G>C
1 paper
NM_001374623.1
p.C158S
c.472T>A
5 papers
NM_001374623.1
p.P155L
c.464C>T
5 papers
NM_001374623.1
p.C150R
c.448T>C
1 paper
NM_001374623.1
p.A147G
c.440C>G
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