Varaico: Literature-Extracted Genetic Variants

AASDHPPT

35 papers

RefSeq Summary

The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast ...

Pfam Domains

AASDHPPT_Naa 24–123UCSC4'-phosphopantetheinyl transferase, N-terminal

ACPSaa 125–244UCSC4'-phosphopantetheinyl transferase superfamily

Gene Aliases

HGNC Name

aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

HGNC Alias Symbols

LYS5; CGI-80; AASD-PPT; ACPS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015423.3

p.G63S

c.187G>A

Surrounding Variants

1 paper

NM_015423.3

p.G63R

c.187G>C

1 paper

NM_015423.3

p.A62G

c.185C>G

1 paper

NM_015423.3

p.R64H

c.191G>A

1 paper

NM_015423.3

p.M66I

c.198G>A

1 paper

NM_015423.3

p.M66I

c.198G>C

1 paper

NM_015423.3

p.M66I

c.198G>T

1 paper

NM_015423.3

p.I67K

c.200T>A

1 paper

NM_015423.3

p.R68M

c.203G>T

1 paper

NM_015423.3

p.L70F

c.210A>C

1 paper

NM_015423.3

p.L70F

c.210A>T

2 papers

NM_015423.3

p.A72T

c.214G>A

2 papers

NM_015423.3

p.A72S

c.214G>T