Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA1
Variant:p.T139_S140delins

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
2 papers
NM_001374623.1
p.T139_S140delins
c.417_418delinsTC
Surrounding Variants
8 papers
NM_001374623.1
p.S140P
c.418T>C
10 papers
NM_001374623.1
p.K141E
c.421A>G
1 paper
NM_001374623.1
p.E142delFs
c.424delG
2 papers
NM_001374623.1
p.E142fs
c.424_425fs
4 papers
NM_001374623.1
p.I145T
c.434T>C
4 papers
NM_001374623.1
p.E146_A147Splc
c.438+2C>G
12 papers
NM_001374623.1
p.E131*
c.391G>T
1 paper
NM_001374623.1
p.G130R
c.388G>A
1 paper
NM_001374623.1
p.G130R
c.388G>C
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
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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."