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

1–12 of 57 variants

3 papers

NM_015423.3

p.R47H

c.140G>A

2 papers

NM_015423.3

p.P12S

c.34C>T

2 papers

NM_015423.3

p.A72T

c.214G>A

2 papers

NM_015423.3

p.A72S

c.214G>T

2 papers

NM_015423.3

p.W79G

c.235T>G

2 papers

NM_015423.3

p.R83C

c.247C>T

2 papers

NM_015423.3

p.K96E

c.286A>G

2 papers

NM_015423.3

p.P248P

c.744C>T

1 paper

NM_015423.3

p.E32Q

c.94G>C

1 paper

NM_015423.3

p.W33*

c.98G>A

1 paper

NM_015423.3

p.Q41del1

c.121_122delCAG

1 paper

NM_015423.3

p.G49D

c.146G>A