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.V140delFs

c.418delC

Surrounding Variants

1 paper

NM_005763.4

p.V140E

c.419T>A

7 papers

NM_005763.4

p.V140L

c.418G>T

2 papers

NM_005763.4

p.V140M

c.418G>A

1 paper

NM_005763.4

p.I131_M139del9

c.391_416del27

1 paper

NM_005763.4

p.M139R

c.416T>G

9 papers

NM_005763.4

p.M139T

c.416T>C

1 paper

NM_005763.4

p.H142Y

c.424C>T

1 paper

NM_005763.4

p.H142D

c.424C>G

2 papers

NM_005763.4

p.H142L

c.425A>T

1 paper

NM_005763.4

p.K138R

c.413A>G

1 paper

NM_005763.4

p.E137delFs

c.411delC

1 paper

NM_005763.4

p.Y136_E137del2

c.406_410del6