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.E1051A

c.3152A>C

Surrounding Variants

1 paper

NM_181806.4

p.S1052C

c.3155C>G

1 paper

NM_181806.4

p.Q1053*

c.3157C>T

1 paper

NM_181806.4

p.I1049I

c.3147C>T

2 papers

NM_181806.4

p.S1059insFs

c.3176_3177ins4

2 papers

NM_181806.4

p.Y1061fs

c.3181_3182fs

2 papers

NM_181806.4

p.E1062A

c.3185A>C

1 paper

NM_181806.4

p.E1035insFs

c.3104_3105insC

1 paper

NM_181806.4

p.E1035insFs

c.3103_3104insC

1 paper

NM_181806.4

p.N1031D

c.3091A>G

2 papers

NM_181806.4

p.Y1030D

c.3088T>G

1 paper

NM_181806.4

p.V1073A

c.3218T>C

1 paper

NM_181806.4

p.F1025Y

c.3074T>A