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.L196V

c.586C>G

Surrounding Variants

1 paper

NM_181806.4

p.V195I

c.583G>A

1 paper

NM_181806.4

p.H197L

c.590A>T

1 paper

NM_181806.4

p.H197Q

c.591T>A

1 paper

NM_181806.4

p.H190L

c.569A>T

1 paper

NM_001286668.2

p.R109G

c.325A>G

1 paper

NM_181806.4

p.K179R

c.536A>G

1 paper

NM_181806.4

p.N176S

c.527A>G

1 paper

NM_181806.4

p.H174Y

c.520C>T

1 paper

NM_181806.4

p.I219V

c.655A>G

1 paper

NM_181806.4

p.S172Y

c.515C>A

1 paper

NM_181806.4

p.H221N

c.661C>A

1 paper

NM_181806.4

p.I170T

c.509T>C