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.T149_E150delFs

c.445_448del4

Surrounding Variants

1 paper

NM_181806.4

p.E150A

c.449A>C

1 paper

NM_181806.4

p.T149I

c.446C>T

1 paper

NM_181806.4

p.W146R

c.436T>A

1 paper

NM_181806.4

p.N156K

c.468T>A

1 paper

NM_181806.4

p.L144R

c.431T>G

1 paper

NM_181806.4

p.L144V

c.430C>G

1 paper

NM_181806.4

p.K159E

c.475A>G

1 paper

NM_181806.4

p.L141R

c.422T>G

1 paper

NM_181806.4

p.E160V

c.479A>T

1 paper

NM_181806.4

p.V140M

c.418G>A

1 paper

NM_181806.4

p.L139Q

c.416T>A

2 papers

NM_181806.4

p.E163D

c.489A>T