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.*310S

c.929G>C

Surrounding Variants

1 paper

NM_015423.3

p.A281S

c.841G>T

1 paper

NM_015423.3

p.P257L

c.770C>T

1 paper

NM_015423.3

p.D255V

c.764A>T

1 paper

NM_015423.3

p.D249Y

c.745G>T

2 papers

NM_015423.3

p.P248P

c.744C>T

1 paper

NM_015423.3

p.S233N

c.698G>A

1 paper

NM_015423.3

p.A229V

c.686C>T

1 paper

NM_015423.3

p.E227Q

c.679G>C

1 paper

NM_015423.3

p.E225*

c.673G>T

1 paper

NM_015423.3

p.E199Q

c.595G>C

1 paper

NM_015423.3

p.R197G

c.589C>G

1 paper

NM_015423.3

p.K164R

c.491A>G