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.G47R

c.139G>C

Surrounding Variants

1 paper

NM_003659.4

p.R48delFs

c.142_143delCG

1 paper

NM_003659.4

p.P49S

c.145C>T

2 papers

NM_003659.4

p.P49H

c.146C>A

2 papers

NM_003659.4

p.P49P

c.147C>T

2 papers

NM_003659.4

p.R50P

c.149G>C

1 paper

NM_003659.4

p.A52insFs

c.154dupG

1 paper

NM_003659.4

p.E51V

c.152A>T

2 papers

NM_003659.4

p.A52P

c.154G>C

1 paper

NM_003659.4

p.L41F

c.121C>T

1 paper

NM_003659.4

p.L53L

c.157C>T

2 papers

NM_003659.4

p.R39G

c.115C>G

1 paper

NM_003659.4

p.N56S

c.167A>G