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.K114insFs

c.342dupA

Surrounding Variants

1 paper

NM_181806.4

p.Q115fs

c.343_344fs

1 paper

NM_181806.4

p.K114fs

c.340_341fs

1 paper

NM_181806.4

p.I116insFs

c.346dupA

1 paper

NM_181806.4

p.E112G

c.335A>G

1 paper

NM_181806.4

p.V111V

c.333T>A

2 papers

NM_181806.4

p.I109V

c.325A>G

1 paper

NM_181806.4

p.K102*

c.304A>T

1 paper

NM_181806.4

p.M101K

c.302T>A

2 papers

NM_181806.4

p.H99R

c.296A>G

1 paper

NM_181806.4

p.S97*

c.290C>A

1 paper

NM_181806.4

p.P94fs

c.280_281fs

1 paper

NM_181806.4

p.P93R

c.278C>G