Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA1
Variant:p.D198Y

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.D198Y
c.592G>T
Surrounding Variants
1 paper
NM_001374623.1
p.D198N
c.592G>A
1 paper
NM_001374623.1
p.D198insFs
c.594dupC
1 paper
NM_001374623.1
p.Q196R
c.587A>G
2 papers
NM_001374623.1
p.R202delFs
c.604delC
1 paper
NM_001374623.1
p.R202W
c.604C>T
2 papers
NM_001374623.1
p.R202fs
c.604_605fs
1 paper
NM_001374623.1
p.T192N
c.575C>A
1 paper
NM_001374623.1
p.S191Y
c.572C>A
2 papers
NM_001374623.1
p.P205L
c.614C>T
1 paper
NM_001374623.1
p.I188L
c.562A>C
1 paper
NM_001374623.1
p.H209Y
c.625C>T
1 paper
NM_001374623.1
p.D186D
c.558C>T
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