Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA1
Variant:p.G130R

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.G130R
c.388G>C
Surrounding Variants
1 paper
NM_001374623.1
p.G130R
c.388G>A
11 papers
NM_001374623.1
p.D129E
c.387C>A
NM_173676.2
p.D34E
c.102C>A
11 papers
NM_001374623.1
p.D129E
c.387C>G
NM_173676.2
p.D34E
c.102C>G
1 paper
NM_173676.2
p.D34N
c.100G>A
12 papers
NM_001374623.1
p.E131*
c.391G>T
2 papers
NM_001374623.1
p.T128M
c.383C>T
1 paper
NM_001374623.1
p.R126H
c.377G>A
8 papers
NM_001374623.1
p.T125N
c.374C>A
1 paper
NM_001374623.1
p.L124L
c.372C>T
5 papers
NM_001374623.1
p.H121P
c.362A>C
2 papers
NM_001374623.1
p.T139_S140delins
c.417_418delinsTC
8 papers
NM_001374623.1
p.S140P
c.418T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."