Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA1
Variant:p.K114insFs

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.K114insFs
c.340_341ins5
Surrounding Variants
1 paper
NM_001374623.1
p.Y113insFs
c.337_338insT
6 papers
NM_001374623.1
p.S112Y
c.335C>A
3 papers
NM_001374623.1
p.T117M
c.350C>T
1 paper
NM_001374623.1
p.V107D
c.320T>A
5 papers
NM_001374623.1
p.H121P
c.362A>C
1 paper
NM_001374623.1
p.R106Q
c.317G>A
2 papers
NM_001374623.1
p.R106W
c.316C>T
1 paper
NM_001374623.1
p.Y105ins2
c.314_315ins6
5 papers
NM_001374623.1
p.L104P
c.311T>C
1 paper
NM_001374623.1
p.L124L
c.372C>T
8 papers
NM_001374623.1
p.T125N
c.374C>A
1 paper
NM_001374623.1
p.R126H
c.377G>A
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