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

7 papers

NM_001166111.2

p.T1058I

c.3173C>T

NM_006702.5

p.T1010I

c.3029C>T

Surrounding Variants

7 papers

NM_001166111.2

p.M1060V

c.3178A>G

NM_006702.5

p.M1012V

c.3034A>G

2 papers

NM_001166111.2

p.P1056L

c.3167C>T

1 paper

NM_001166114.2

p.T1044T

c.3132G>A

1 paper

NM_001166111.2

p.L1051S

c.3152T>C

9 papers

NM_001166111.2

p.F1066S

c.3197T>C

NM_006702.5

p.F1018S

c.3053T>C

1 paper

NM_001166114.2

p.R1058C

c.3172C>T

1 paper

NM_001166114.2

p.S1059delins

c.3175_3176delinsTG

1 paper

NM_001166114.2

p.V1036M

c.3106G>A

1 paper

NM_001166114.2

p.H1061Y

c.3181C>T

9 papers

NM_001166111.2

p.S1045L

c.3134C>T

NM_006702.5

p.S997L

c.2990C>T

4 papers

NM_001166111.2

p.T1044A

c.3130A>G

NM_006702.5

p.T996A

c.2986A>G

1 paper

NM_001166114.2

p.Q1068*

c.3202C>T