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.V1100G

c.3299T>G

Surrounding Variants

10 papers

NM_001166111.2

p.V1110M

c.3328G>A

NM_006702.5

p.V1062M

c.3184G>A

2 papers

NM_001166111.2

p.Y1109C

c.3326A>G

5 papers

NM_001166111.2

p.A1112T

c.3334G>A

NM_006702.5

p.A1064T

c.3190G>A

6 papers

NM_001166111.2

p.R1108W

c.3322C>T

NM_006702.5

p.R1060W

c.3178C>T

1 paper

NM_001166114.2

p.R1098fs

c.3292_3293fs

3 papers

NM_001166111.2

p.T1115M

c.3344C>T

NM_001166114.2

p.T1105M

c.3314C>T

1 paper

NM_001166114.2

p.G1094G

c.3282C>T

2 papers

NM_001166114.2

p.G1108D

c.3323G>A

10 papers

NM_001166111.2

p.P1122L

c.3365C>T

NM_006702.5

p.P1074L

c.3221C>T

1 paper

NM_001166111.2

p.C1124Y

c.3371G>A

10 papers

NM_001166111.2

p.D1125N

c.3373G>A

NM_001166114.2

p.D1115N

c.3343G>A

NM_006702.5

p.D1077N

c.3229G>A

1 paper

NM_001166111.2

p.D1128N

c.3382G>A