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

4 papers

NM_181806.4

p.L440delFs

c.1319delA

Surrounding Variants

1 paper

NM_181806.4

p.L440F

c.1320G>T

2 papers

NM_181806.4

p.L440insFs

c.1319dupT

6 papers

NM_181806.4

p.L440fs

c.1318_1319fs

1 paper

NM_181806.4

p.L440F

c.1320G>C

2 papers

NM_181806.4

p.L440W

c.1319T>G

1 paper

NM_181806.4

p.L440fs

c.1318_1319fs

1 paper

NM_181806.4

p.S445_K448del4

c.1333_1343del12

1 paper

NM_181806.4

p.L454P

c.1361T>C

1 paper

NM_181806.4

p.N455D

c.1363A>G

1 paper

NM_181806.4

p.T426A

c.1276A>G

1 paper

NM_001286668.2

p.A325G

c.974C>G

1 paper

NM_181806.4

p.G421A

c.1262G>C