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

1–12 of 211 variants

4 papers

NM_003659.4

p.R419H

c.1256G>A

3 papers

NM_003659.4

p.T568M

c.1703C>T

2 papers

NM_003659.4

p.A2P

c.4G>C

2 papers

NM_003659.4

p.A5G

c.14C>G

2 papers

NM_003659.4

p.G12R

c.34G>C

2 papers

NM_003659.4

p.D24G

c.71A>G

2 papers

NM_003659.4

p.R33P

c.98G>C

2 papers

NM_003659.4

p.R39G

c.115C>G

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

2 papers

NM_003659.4

p.A52P

c.154G>C