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.D516H

c.1546G>C

Surrounding Variants

2 papers

NM_003659.4

p.A518V

c.1553C>T

1 paper

NM_003659.4

p.E520K

c.1558G>A

2 papers

NM_003659.4

p.Y522C

c.1565A>G

1 paper

NM_003659.4

p.S527F

c.1580C>T

1 paper

NM_003659.4

p.A532S

c.1594G>T

1 paper

NM_003659.4

p.P533L

c.1598C>T

1 paper

NM_003659.4

p.R536Splc

c.1607+65T>C

1 paper

NM_003659.4

p.Y513Y

c.1539C>T

1 paper

NM_003659.4

p.I511M

c.1533T>G

2 papers

NM_003659.4

p.L506F

c.1518G>C

2 papers

NM_003659.4

p.L506F

c.1518G>T

1 paper

NM_003659.4

p.G501R

c.1501G>A