Varaico: Literature-Extracted Genetic Variants

AASDH

268 papers

RefSeq Summary

This gene encodes a member of the non-ribosome peptide syntesase (NRPS) enzyme family. The encoded protein contains an AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine 4'phosphate-bi...

Pfam Domains

AMP-bindingaa 7–409UCSCAMP-binding enzyme

PP-bindingaa 557–626UCSCPhosphopantetheine attachment site

Beta-prop_ACSF4aa 763–1092UCSCBeta-alanine-activating enzyme, beta-propeller

Gene Aliases

HGNC Name

aminoadipate-semialdehyde dehydrogenase

HGNC Alias Symbols

NRPS998; LYS2; ACSF4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_181806.4

p.S73P

c.217T>C

Surrounding Variants

1 paper

NM_181806.4

p.P72T

c.214C>A

1 paper

NM_181806.4

p.D70V

c.209A>T

1 paper

NM_181806.4

p.P67R

c.200C>G

1 paper

NM_181806.4

p.R59W

c.175C>T

1 paper

NM_181806.4

p.Q56R

c.167A>G

1 paper

NM_181806.4

p.L51S

c.152T>C

1 paper

NM_181806.4

p.L50P

c.149T>C

1 paper

NM_181806.4

p.A42G

c.125C>G

1 paper

NM_181806.4

p.V38E

c.113T>A

1 paper

NM_181806.4

p.T37N

c.110C>A

1 paper

NM_181806.4

p.L29P

c.86T>C

1 paper

NM_181806.4

p.L29H

c.86T>A