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

1–12 of 180 variants

6 papers

NM_181806.4

p.L440fs

c.1318_1319fs

4 papers

NM_181806.4

p.L440delFs

c.1319delA

3 papers

NM_181806.4

p.K164R

c.491A>G

3 papers

NM_181806.4

p.T865A

c.2593A>G

2 papers

NM_181806.4

p.K9Q

c.25A>C

2 papers

NM_181806.4

p.C25S

c.73T>A

2 papers

NM_181806.4

p.C25S

c.74G>C

2 papers

NM_181806.4

p.H99R

c.296A>G

2 papers

NM_181806.4

p.I109V

c.325A>G

2 papers

NM_181806.4

p.K114insFs

c.342dupA

2 papers

NM_181806.4

p.E163D

c.489A>T

2 papers

NM_181806.4

p.E165K

c.493G>A