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

9 papers

NM_001166111.2

p.G578W

c.1732G>T

NM_006702.5

p.G530W

c.1588G>T

Surrounding Variants

1 paper

NM_001166114.2

p.G569R

c.1705G>A

1 paper

NM_001166114.2

p.G569insFs

c.1705dupG

2 papers

NM_001166111.2

p.E579K

c.1735G>A

1 paper

NM_001166114.2

p.E570fs

c.1708_1709fs

1 paper

NM_001166114.2

p.L571L

c.1711C>T

1 paper

NM_001166114.2

p.L571L

c.1713G>T

1 paper

NM_006702.5

p.L524P

c.1571T>C

2 papers

NM_001166114.2

p.A558Fs

c.1672_1674delinsTAFs

1 paper

NM_001166114.2

p.L583V

c.1747C>G

1 paper

NM_001166114.2

p.R588_A589delFs

c.1762_1765del4

1 paper

NM_001166114.2

p.A589T

c.1765G>A

1 paper

NM_001166114.2

p.H541Y

c.1621C>T