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

2 papers

NM_001166114.2

p.E1028_W1029insFs

c.3084_3085ins4

Surrounding Variants

1 paper

NM_001166114.2

p.E1028_W1029insFs

c.3084_3085ins5

1 paper

NM_001166114.2

p.A1030_K1031insFs

c.3088_3091dup4

1 paper

NM_001166114.2

p.K1031delFs

c.3092delA

3 papers

NM_001166114.2

p.R1021fs

c.3061_3062fs

NM_001166111.2

p.R1031fs

c.3091_3092fs

NM_006702.5

p.R983fs

c.2947_2948fs

14 papers

NM_001166111.2

p.R1031fs

c.3091_3092fs

NM_006702.5

p.R983fs

c.2947_2948fs

NM_001166114.2

p.R1021fs

c.3061_3062fs

1 paper

NM_001166114.2

p.S1020I

c.3059G>T

1 paper

NM_001166111.2

p.S1030fs

c.3088_3089fs

2 papers

NM_001166111.2

p.S1030G

c.3088A>G

1 paper

NM_001166111.2

p.A1029T

c.3085G>A

12 papers

NM_001166111.2

p.S1028_A1029insFs

c.3084_3085ins4

NM_006702.5

p.S982_R983insFs

c.2944_2947dup4

NM_001166114.2

p.S1020_R1021insFs

c.3058_3061dup4

2 papers

NM_006702.5

p.G972R

c.2914G>A

1 paper

NM_006702.5

p.G972R

c.2914G>C