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.E163D

c.489A>T

Surrounding Variants

3 papers

NM_181806.4

p.K164R

c.491A>G

2 papers

NM_181806.4

p.E165K

c.493G>A

1 paper

NM_181806.4

p.E160V

c.479A>T

1 paper

NM_181806.4

p.K159E

c.475A>G

1 paper

NM_181806.4

p.I170T

c.509T>C

1 paper

NM_181806.4

p.N156K

c.468T>A

1 paper

NM_181806.4

p.S172Y

c.515C>A

1 paper

NM_181806.4

p.H174Y

c.520C>T

1 paper

NM_181806.4

p.N176S

c.527A>G

1 paper

NM_181806.4

p.T149_E150delFs

c.445_448del4

1 paper

NM_181806.4

p.E150A

c.449A>C

1 paper

NM_181806.4

p.T149I

c.446C>T