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.A22T

c.64G>A

Surrounding Variants

2 papers

NM_003659.4

p.D24G

c.71A>G

1 paper

NM_003659.4

p.R25L

c.74G>T

1 paper

NM_003659.4

p.A17T

c.49G>A

1 paper

NM_003659.4

p.D28V

c.83A>T

1 paper

NM_003659.4

p.D30H

c.88G>C

1 paper

NM_003659.4

p.G14C

c.40G>T

1 paper

NM_003659.4

p.L13L

c.39G>A

1 paper

NM_003659.4

p.L13fs

c.37_38fs

1 paper

NM_003659.4

p.G12D

c.35G>A

2 papers

NM_003659.4

p.G12R

c.34G>C

2 papers

NM_003659.4

p.R33P

c.98G>C

1 paper

NM_003659.4

p.R33L

c.98G>T