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

3 papers

NM_001166111.2

p.Q737_V738Splc

c.2212-10A>G

NM_006702.5

p.Q689_V690Splc

c.2068-10A>G

Surrounding Variants

6 papers

NM_006702.5

p.Q689_V690Splc

c.2068-1G>C

NM_001166111.2

p.Q737_V738Splc

c.2212-1G>C

8 papers

NM_001166111.2

p.V738fs

c.2212_2213fs

1 paper

NM_001166113.1

p.L694fs

c.2080_2081fs

1 paper

NM_001166114.2

p.L737M

c.2209C>A

2 papers

NM_001166111.2

p.S747N

c.2240G>A

1 paper

NM_001166111.2

p.Q755P

c.2264A>C

5 papers

NM_001166111.2

p.Q756*

c.2266C>T

NM_006702.5

p.Q708*

c.2122C>T

1 paper

NM_001166114.2

p.P751S

c.2251C>T

1 paper

NM_001166114.2

p.R724R

c.2172C>G

1 paper

NM_001166114.2

p.K723T

c.2168A>C

1 paper

NM_001166114.2

p.G720D

c.2159G>A

1 paper

NM_001166114.2

p.G720C

c.2158G>T