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.L127V

c.379C>G

Surrounding Variants

1 paper

NM_005763.4

p.I126delFs

c.378delA

1 paper

NM_005763.4

p.L127insFs

c.379dupC

8 papers

NM_005763.4

p.L127R

c.380T>G

2 papers

NM_005763.4

p.L127P

c.380T>C

2 papers

NM_005763.4

p.L127Q

c.380T>A

1 paper

NM_005763.4

p.I126insFs

c.376dupA

1 paper

NM_005763.4

p.N119_E125del7

c.355_374del21

1 paper

NM_005763.4

p.I126V

c.376A>G

1 paper

NM_005763.4

p.K128R

c.383A>G

1 paper

NM_005763.4

p.M120_L127del8

c.358_380del24

1 paper

NM_005763.4

p.E125insFs

c.373_374ins11

1 paper

NM_005763.4

p.E125Q

c.373G>C