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.F195L

c.585C>G

Surrounding Variants

1 paper

NM_001166114.2

p.L194I

c.580C>A

1 paper

NM_001166114.2

p.L198_C199insFs

c.594_595insT

1 paper

NM_001166114.2

p.M202L

c.604A>T

1 paper

NM_001166111.2

p.H198_F199insT

c.592_596ins3

1 paper

NM_001166114.2

p.P216A

c.646C>G

2 papers

NM_006702.5

p.G178C

c.532G>T

1 paper

NM_001166114.2

p.L231L

c.691C>T

1 paper

NM_006702.5

p.E193*

c.577G>T

1 paper

NM_001166114.2

p.R185R

c.553C>A

1 paper

NM_001166114.2

p.G237E

c.710G>A

1 paper

NM_001166114.2

p.P238L

c.713C>T

1 paper

NM_001166114.2

p.Y179*

c.537T>A