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

1 paper

NM_005763.4

p.K74N

c.222A>C

Surrounding Variants

1 paper

NM_005763.4

p.K74N

c.222A>T

1 paper

NM_005763.4

p.K74insFs

c.221dupA

1 paper

NM_005763.4

p.A75T

c.223G>A

1 paper

NM_005763.4

p.K74T

c.221A>C

1 paper

NM_005763.4

p.K74insFs

c.221_222ins4

1 paper

NM_005763.4

p.A75G

c.224C>G

1 paper

NM_005763.4

p.K74*

c.220A>T

1 paper

NM_005763.4

p.A75A

c.225T>C

2 papers

NM_005763.4

p.A75delFs

c.224delG

1 paper

NM_005763.4

p.V73insFs

c.218_219insA

1 paper

NM_005763.4

p.V73D

c.218T>A

2 papers

NM_005763.4

p.G76S

c.226G>A