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

11 papers

NM_001166111.2

p.G1129R

c.3385G>A

NM_006702.5

p.G1081R

c.3241G>A

NM_001166114.2

p.G1119R

c.3355G>A

Surrounding Variants

10 papers

NM_001166111.2

p.G1129R

c.3385G>C

NM_006702.5

p.G1081R

c.3241G>C

3 papers

NM_001166111.2

p.G1129V

c.3386G>T

3 papers

NM_001166111.2

p.H1130Y

c.3388C>T

1 paper

NM_001166111.2

p.D1128N

c.3382G>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.C1124Y

c.3371G>A

3 papers

NM_001166111.2

p.D1134V

c.3401A>T

5 papers

NM_001166114.2

p.G1125S

c.3373G>A

1 paper

NM_001166111.2

p.G1135D

c.3404G>A

1 paper

NM_001166114.2

p.G1125G

c.3375C>G

10 papers

NM_001166111.2

p.P1122L

c.3365C>T

NM_006702.5

p.P1074L

c.3221C>T

1 paper

NM_001166114.2

p.G1126_I1128ins1

c.3377_3382dup6