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

1–12 of 595 variants

9 papers

NM_001166111.2

p.G840E

c.2519G>A

9 papers

NM_001166111.2

p.R1031fs

c.3091_3092fs

9 papers

NM_001166111.2

p.P1122L

c.3365C>T

8 papers

NM_001166111.2

p.G578W

c.1732G>T

8 papers

NM_001166111.2

p.V738fs

c.2212_2213fs

8 papers

NM_001166114.2

p.S982_H983insFs

c.2944_2947dup4

8 papers

NM_001166111.2

p.F1066S

c.3197T>C

8 papers

NM_001166111.2

p.V1110M

c.3328G>A

7 papers

NM_001166111.2

p.S1045L

c.3134C>T

7 papers

NM_001166111.2

p.G1129R

c.3385G>A

7 papers

NM_001166111.2

p.G1129R

c.3385G>C

6 papers

NM_001166111.2

p.V263I

c.787G>A