Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA1
Variant:p.L43fs

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
1 paper
NM_001374623.1
p.L43fs
c.127_128fs
Surrounding Variants
5 papers
NM_001374623.1
p.R41fs
c.121_122fs
1 paper
NM_001374623.1
p.A39G
c.116C>G
4 papers
NM_001374623.1
p.R41delFs
c.121delC
1 paper
NM_001374623.1
p.D37_L38insFs
c.111_112ins4
1 paper
NM_001374623.1
p.R48P
c.143G>C
1 paper
NM_001374623.1
p.R36G
c.106C>G
1 paper
NM_001374623.1
p.R36W
c.106C>T
1 paper
NM_001374623.1
p.A50T
c.148G>A
1 paper
NM_001374623.1
p.A50E
c.149C>A
2 papers
NM_001374623.1
p.A34A
c.102C>A
1 paper
NM_001374623.1
p.T52ins2
c.154_155ins6
17 papers
NM_001374623.1
p.A34T
c.100G>A
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