Varaico: Literature-Extracted Genetic Variants

AASS

740 papers

RefSeq Summary

This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglu...

Pfam Domains

AlaDh_PNT_Naa 27–157UCSCAlanine dehydrogenase/PNT, N-terminal domain

Sacchrp_dh_NADPaa 483–598UCSCSaccharopine dehydrogenase NADP binding domain

Sacchrp_dh_Caa 602–916UCSCSaccharopine dehydrogenase C-terminal domain

Gene Aliases

HGNC Name

aminoadipate-semialdehyde synthase

HGNC Alias Symbols

LORSDH; LKRSDH; LKR/SDH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005763.4

p.L122delFs

c.366delC

Surrounding Variants

1 paper

NM_005763.4

p.L123_D124insFs

c.369_370insA

1 paper

NM_005763.4

p.D124G

c.371A>G

1 paper

NM_005763.4

p.D124insFs

c.370_371ins5

1 paper

NM_005763.4

p.D124delFs

c.370delC

1 paper

NM_005763.4

p.D124E

c.372T>G

1 paper

NM_005763.4

p.D124E

c.372T>A

1 paper

NM_005763.4

p.E125insFs

c.373_374ins11

1 paper

NM_005763.4

p.E125Q

c.373G>C

1 paper

NM_005763.4

p.E125K

c.373G>A

1 paper

NM_005763.4

p.I126V

c.376A>G

1 paper

NM_005763.4

p.M120_G121insC

c.358_362ins3

1 paper

NM_005763.4

p.I126insFs

c.376dupA