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.W932*

c.2796G>A

Surrounding Variants

1 paper

NM_181806.4

p.W932*

c.2795G>A

1 paper

NM_181806.4

p.I931T

c.2792T>C

3 papers

NM_181806.4

p.T865A

c.2593A>G

1 paper

NM_181806.4

p.W848C

c.2544G>T

1 paper

NM_181806.4

p.W848C

c.2544G>C

1 paper

NM_181806.4

p.C831S

c.2491T>A

1 paper

NM_181806.4

p.S974P

c.2920T>C

1 paper

NM_181806.4

p.F993C

c.2978T>G

1 paper

NM_181806.4

p.L1010L

c.3028C>T

1 paper

NM_181806.4

p.F1025Y

c.3074T>A

2 papers

NM_181806.4

p.Y1030D

c.3088T>G

1 paper

NM_181806.4

p.N1031D

c.3091A>G