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.L12L

c.34C>T

Surrounding Variants

1 paper

NM_005763.4

p.L9_R11insFs

c.26_33dup8

1 paper

NM_005763.4

p.G10_R11Fs

c.28_33delinsTAGGAGGCCCCTAFs

1 paper

NM_005763.4

p.L12insFs

c.35dupT

1 paper

NM_005763.4

p.L12_G13ins2

c.36_37ins6

2 papers

NM_005763.4

p.R11K

c.32G>A

1 paper

NM_005763.4

p.T7_L12delFs

c.19_35del17

3 papers

NM_005763.4

p.G13R

c.37G>C

3 papers

NM_005763.4

p.G13R

c.37G>A

1 paper

NM_005763.4

p.G13E

c.38G>A

2 papers

NM_005763.4

p.R6_L12delFs

c.17_35del19

1 paper

NM_005763.4

p.G10delFs

c.28delC

2 papers

NM_005763.4

p.G13G

c.39G>T