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.E32Q

c.94G>C

Surrounding Variants

1 paper

NM_015423.3

p.W33*

c.98G>A

1 paper

NM_015423.3

p.Q41del1

c.121_122delCAG

3 papers

NM_015423.3

p.R47H

c.140G>A

1 paper

NM_015423.3

p.G49D

c.146G>A

1 paper

NM_015423.3

p.G49V

c.146G>T

1 paper

NM_015423.3

p.Q50E

c.148C>G

2 papers

NM_015423.3

p.P12S

c.34C>T

1 paper

NM_015423.3

p.D56N

c.166G>A

1 paper

NM_015423.3

p.K58N

c.174G>C

1 paper

NM_015423.3

p.K58N

c.174G>T

1 paper

NM_015423.3

p.A59T

c.175G>A

1 paper

NM_015423.3

p.A60P

c.178G>C