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.R29R

c.85C>A

Surrounding Variants

2 papers

NM_005763.4

p.R29Q

c.86G>A

1 paper

NM_005763.4

p.V28V

c.84C>A

1 paper

NM_005763.4

p.R30insFs

c.88_89ins4

2 papers

NM_005763.4

p.R30delFs

c.88delT

1 paper

NM_005763.4

p.A27A

c.81C>T

1 paper

NM_005763.4

p.A27V

c.80C>T

1 paper

NM_005763.4

p.A27delFs

c.79delC

1 paper

NM_005763.4

p.R30ins0

c.88_90dupAGG

1 paper

NM_005763.4

p.V25_L26delFs

c.73_76del4

1 paper

NM_005763.4

p.E31E

c.93G>A

1 paper

NM_005763.4

p.R29_E31Fs

c.86_92delinsGGFs

1 paper

NM_005763.4

p.D32N

c.94G>A