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.S614P

c.1840T>C

Surrounding Variants

1 paper

NM_003659.4

p.S612I

c.1835G>T

1 paper

NM_003659.4

p.V619G

c.1856T>G

1 paper

NM_003659.4

p.E604D

c.1812A>C

1 paper

NM_003659.4

p.E604D

c.1812A>T

1 paper

NM_003659.4

p.E599K

c.1795G>A

1 paper

NM_003659.4

p.V594I

c.1780G>A

1 paper

NM_003659.4

p.D590H

c.1768G>C

1 paper

NM_003659.4

p.G574S

c.1720G>A

1 paper

NM_003659.4

p.Y571S

c.1712A>C

1 paper

NM_003659.4

p.Q569H

c.1707G>C

1 paper

NM_003659.4

p.Q569H

c.1707G>T

3 papers

NM_003659.4

p.T568M

c.1703C>T