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.D1081H

c.3241G>C

Surrounding Variants

2 papers

NM_001166111.2

p.D1081N

c.3241G>A

NM_001166114.2

p.D1071N

c.3211G>A

1 paper

NM_001166114.2

p.L1072M

c.3214C>A

1 paper

NM_001166114.2

p.N1078Y

c.3232A>T

2 papers

NM_001166114.2

p.T1081T

c.3243A>G

1 paper

NM_001166114.2

p.I1083delFs

c.3247delA

1 paper

NM_001166114.2

p.M1088L

c.3262A>T

1 paper

NM_001166114.2

p.R1089*

c.3265C>T

8 papers

NM_001166111.2

p.R1099Q

c.3296G>A

NM_006702.5

p.R1051Q

c.3152G>A

6 papers

NM_001166111.2

p.V1100G

c.3299T>G

NM_006702.5

p.V1052G

c.3155T>G

1 paper

NM_001166114.2

p.Q1068*

c.3202C>T

1 paper

NM_001166114.2

p.H1061Y

c.3181C>T

1 paper

NM_001166114.2

p.S1059delins

c.3175_3176delinsTG