Varaico: Literature-Extracted Genetic Variants

PNPLA6

219 papers

RefSeq Summary

This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neu...

Pfam Domains

cNMP_bindingaa 213–308UCSCCyclic nucleotide-binding domain

cNMP_bindingaa 530–619UCSCCyclic nucleotide-binding domain

cNMP_bindingaa 647–735UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

patatin like domain 6, lysophospholipase

HGNC Alias Symbols

NTE; sws; iPLA2delta; SPG39

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001166114.2

p.E176delFs

c.526delG

Surrounding Variants

1 paper

NM_001166114.2

p.L173L

c.519G>C

1 paper

NM_001166114.2

p.L173R

c.518T>G

1 paper

NM_001166114.2

p.Y179*

c.537T>A

1 paper

NM_001166114.2

p.Y179*

c.537T>G

1 paper

NM_001166114.2

p.L168insFs

c.502_503insT

1 paper

NM_001166114.2

p.R185R

c.553C>A

1 paper

NM_006702.5

p.A122delFs

c.365delC

1 paper

NM_006702.5

p.A122fs

c.364_365fs

1 paper

NM_001166114.2

p.L159L

c.475C>T

1 paper

NM_001166113.1

p.P117S

c.349C>T

2 papers

NM_001166111.2

p.P165fs

c.493_494fs

1 paper

NM_001166114.2

p.P154P

c.462C>G