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

7 papers

NM_001166111.2

p.V263I

c.787G>A

NM_006702.5

p.V215I

c.643G>A

Surrounding Variants

1 paper

NM_001166111.2

p.V263D

c.788T>A

1 paper

NM_001166114.2

p.N255insFs

c.764_765insT

1 paper

NM_001166114.2

p.D252delFs

c.756delC

1 paper

NM_001166114.2

p.S256fs

c.766_767fs

1 paper

NM_001166114.2

p.D252fs

c.754_755fs

1 paper

NM_001166114.2

p.I260insFs

c.778_779insA

1 paper

NM_001166114.2

p.D262_V263insG

c.784_788ins3

1 paper

NM_001166114.2

p.D262delFs

c.785delA

4 papers

NM_001166114.2

p.V263I

c.787G>A

1 paper

NM_006702.5

p.P199_D200Splc

c.598-2A>C

1 paper

NM_001166114.2

p.V274A

c.821T>C

6 papers

NM_001166111.2

p.R289G

c.865C>G

NM_006702.5

p.R241G

c.721C>G