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_001166111.2

p.G880fs

c.2638_2639fs

Surrounding Variants

2 papers

NM_001166111.2

p.G880fs

c.2638_2639fs

3 papers

NM_001166111.2

p.G878D

c.2633G>A

NM_006702.5

p.G830D

c.2489G>A

2 papers

NM_001166111.2

p.E883fs

c.2647_2648fs

1 paper

NM_001166114.2

p.E873G

c.2618A>G

1 paper

NM_001166114.2

p.E873E

c.2619G>A

2 papers

NM_006702.5

p.T808M

c.2423C>T

NM_001166114.2

p.T846M

c.2537C>T

2 papers

NM_001166114.2

p.Q835delFs

c.2504_2505delAG

1 paper

NM_001166114.2

p.L832insFs

c.2494_2495ins13

1 paper

NM_001166114.2

p.L832insFs

c.2494_2495ins13

1 paper

NM_006702.5

p.W793S

c.2378G>C

1 paper

NM_001166114.2

p.L832insFs

c.2494_2495ins14

11 papers

NM_001166111.2

p.G840E

c.2519G>A

NM_006702.5

p.G792E

c.2375G>A

NM_001166114.2

p.G830E

c.2489G>A