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

3 papers

NM_001166114.2

p.G985R

c.2953G>A

NM_001166111.2

p.G995R

c.2983G>A

Surrounding Variants

3 papers

NM_001166114.2

p.G985R

c.2953G>C

NM_001166111.2

p.G995R

c.2983G>C

1 paper

NM_001166114.2

p.G985delFs

c.2953delG

1 paper

NM_001166114.2

p.S982_H983insFs

c.2946_2947ins4

1 paper

NM_001166114.2

p.S982_H983insFs

c.2946_2947ins5

1 paper

NM_001166114.2

p.S982fs

c.2944_2945fs

1 paper

NM_001166114.2

p.S982_L987delFs

c.2945_2961del17

8 papers

NM_001166114.2

p.S982_H983insFs

c.2944_2947dup4

1 paper

NM_001166114.2

p.G980A

c.2939G>C

1 paper

NM_001166114.2

p.G980S

c.2938G>A

2 papers

NM_001166111.2

p.L1000S

c.2999T>C

1 paper

NM_001166114.2

p.E992K

c.2974G>A

1 paper

NM_001166111.2

p.D1008G

c.3023A>G