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.V636A

c.1907T>C

Surrounding Variants

1 paper

NM_181806.4

p.D633N

c.1897G>A

1 paper

NM_181806.4

p.I626T

c.1877T>C

1 paper

NM_181806.4

p.Y623F

c.1868A>T

1 paper

NM_181806.4

p.D650Y

c.1948G>T

1 paper

NM_181806.4

p.L661*

c.1982T>A

1 paper

NM_181806.4

p.L610F

c.1828C>T

1 paper

NM_181806.4

p.S597C

c.1789A>T

1 paper

NM_181806.4

p.A705V

c.2114C>T

1 paper

NM_181806.4

p.V726A

c.2177T>C

1 paper

NM_181806.4

p.A747V

c.2240C>T

1 paper

NM_181806.4

p.K765_C766insFs

c.2295_2296ins37

1 paper

NM_181806.4

p.V774V

c.2322A>G