Varaico: Literature-Extracted Genetic Variants

AGPS

102 papers

RefSeq Summary

This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephospha...

Pfam Domains

FAD_binding_4aa 206–348UCSCFAD binding domain

FAD-oxidase_Caa 384–657UCSCFAD linked oxidases, C-terminal domain

Gene Aliases

HGNC Name

alkylglycerone phosphate synthase

HGNC Alias Symbols

ADHAPS; ADAS; ALDHPSY; ADPS; ADAP-S

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003659.4

p.G492Splc

c.1475+5G>A

Surrounding Variants

1 paper

NM_003659.4

p.E475A

c.1424A>C

1 paper

NM_003659.4

p.R474H

c.1421G>A

2 papers

NM_003659.4

p.E471K

c.1411G>A

2 papers

NM_003659.4

p.L469P

c.1406T>C

1 paper

NM_003659.4

p.G457E

c.1370G>A

1 paper

NM_003659.4

p.G457R

c.1369G>A

1 paper

NM_003659.4

p.G457R

c.1369G>C

1 paper

NM_003659.4

p.K454_F455Splc

c.1363-1G>T

1 paper

NM_003659.4

p.K454_F455Splc

c.1362+79G>A

2 papers

NM_003659.4

p.S442T

c.1324T>A

1 paper

NM_003659.4

p.G501R

c.1501G>A

1 paper

NM_003659.4

p.G501R

c.1501G>C