Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA1
Variant:p.G78D

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
4 papers
NM_001374623.1
p.G78D
c.233G>A
Surrounding Variants
1 paper
NM_001374623.1
p.N76fs
c.226_227fs
1 paper
NM_001374623.1
p.V74fs
c.220_221fs
2 papers
NM_001374623.1
p.L72P
c.215T>C
1 paper
NM_001374623.1
p.L72fs
c.214_215fs
1 paper
NM_001374623.1
p.E70A
c.209A>C
2 papers
NM_001374623.1
p.D69Splc
c.206-1G>T
3 papers
NM_001374623.1
p.P89L
c.266C>T
6 papers
NM_001374623.1
p.P92delFs
c.275delC
5 papers
NM_001374623.1
p.P92fs
c.274_275fs
2 papers
NM_001374623.1
p.C94insFs
c.282dupT
2 papers
NM_001374623.1
p.K95*
c.283A>T
6 papers
NM_001374623.1
p.R101G
c.301A>G
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