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.A712delFs

c.2135delC

Surrounding Variants

2 papers

NM_001166114.2

p.A712P

c.2134G>C

1 paper

NM_001166114.2

p.K713fs

c.2137_2138fs

1 paper

NM_001166114.2

p.P715_E716del1

c.2144_2146delCCG

1 paper

NM_006702.5

p.E677D

c.2031G>C

1 paper

NM_006702.5

p.E677D

c.2031G>T

2 papers

NM_001166114.2

p.R707C

c.2119C>T

7 papers

NM_001166111.2

p.G726R

c.2176G>C

NM_006702.5

p.G678R

c.2032G>C

1 paper

NM_006702.5

p.A666P

c.1996G>C

1 paper

NM_001166114.2

p.G720C

c.2158G>T

1 paper

NM_001166114.2

p.G720D

c.2159G>A

2 papers

NM_001166114.2

p.V703L

c.2107G>C

1 paper

NM_001166114.2

p.V703L

c.2107G>T