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

2 papers

NM_015423.3

p.W79G

c.235T>G

Surrounding Variants

1 paper

NM_015423.3

p.L75F

c.225G>C

1 paper

NM_015423.3

p.L75*

c.224T>A

2 papers

NM_015423.3

p.R83C

c.247C>T

1 paper

NM_015423.3

p.K74N

c.222A>C

1 paper

NM_015423.3

p.K74N

c.222A>T

1 paper

NM_015423.3

p.E73K

c.217G>A

1 paper

NM_015423.3

p.E73*

c.217G>T

2 papers

NM_015423.3

p.A72T

c.214G>A

2 papers

NM_015423.3

p.A72S

c.214G>T

1 paper

NM_015423.3

p.L70F

c.210A>C

1 paper

NM_015423.3

p.L70F

c.210A>T

1 paper

NM_015423.3

p.R68M

c.203G>T