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

2 papers

NM_003659.4

p.R33P

c.98G>C

Surrounding Variants

1 paper

NM_003659.4

p.R33L

c.98G>T

1 paper

NM_003659.4

p.G35V

c.104G>T

1 paper

NM_003659.4

p.R36Q

c.107G>A

1 paper

NM_003659.4

p.D30H

c.88G>C

1 paper

NM_003659.4

p.R37W

c.109A>T

1 paper

NM_003659.4

p.D28V

c.83A>T

2 papers

NM_003659.4

p.R39G

c.115C>G

1 paper

NM_003659.4

p.L41F

c.121C>T

1 paper

NM_003659.4

p.R25L

c.74G>T

2 papers

NM_003659.4

p.D24G

c.71A>G

1 paper

NM_003659.4

p.A22T

c.64G>A

1 paper

NM_003659.4

p.G47R

c.139G>C