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.V289A

c.866T>C

Surrounding Variants

1 paper

NM_001166114.2

p.L287delins

c.859delinsACCGTGT

1 paper

NM_001166114.2

p.R286P

c.857G>C

1 paper

NM_001166114.2

p.R286C

c.856C>T

1 paper

NM_001166114.2

p.V284_L287Fs

c.851_859delinsACCGTGTFs

1 paper

NM_001166114.2

p.V284_L285delFs

c.850_854del5

1 paper

NM_001166114.2

p.T283S

c.847A>T

6 papers

NM_001166111.2

p.R289G

c.865C>G

NM_006702.5

p.R241G

c.721C>G

1 paper

NM_006702.5

p.R241W

c.721C>T

2 papers

NM_001166111.2

p.P309L

c.926C>T

1 paper

NM_001166114.2

p.E301K

c.901G>A

1 paper

NM_001166114.2

p.S302T

c.905G>C

1 paper

NM_001166114.2

p.V304E

c.911T>A