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

2 papers

NM_181806.4

p.C25S

c.73T>A

Surrounding Variants

2 papers

NM_181806.4

p.C25S

c.74G>C

1 paper

NM_181806.4

p.N26Y

c.76A>T

1 paper

NM_181806.4

p.N26D

c.76A>G

1 paper

NM_181806.4

p.L29P

c.86T>C

1 paper

NM_181806.4

p.L29H

c.86T>A

1 paper

NM_181806.4

p.V18L

c.52G>C

1 paper

NM_181806.4

p.V18I

c.52G>A

1 paper

NM_181806.4

p.R17S

c.51A>C

1 paper

NM_181806.4

p.T37N

c.110C>A

1 paper

NM_181806.4

p.V38E

c.113T>A

1 paper

NM_181806.4

p.K9R

c.26A>G

1 paper

NM_181806.4

p.K9E

c.25A>G