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.P61P

c.183T>G

Surrounding Variants

1 paper

NM_005763.4

p.P61delFs

c.181delG

1 paper

NM_005763.4

p.P61L

c.182C>T

1 paper

NM_005763.4

p.S62L

c.185C>T

1 paper

NM_005763.4

p.P61S

c.181C>T

1 paper

NM_005763.4

p.S62insFs

c.184_185insTC

3 papers

NM_005763.4

p.N63_R64ins6

c.187_191ins18

1 paper

NM_005763.4

p.Q60*

c.178C>T

1 paper

NM_005763.4

p.N63I

c.188A>T

1 paper

NM_005763.4

p.N63S

c.188A>G

1 paper

NM_005763.4

p.I59insFs

c.175dupA

1 paper

NM_005763.4

p.R64W

c.190C>T

1 paper

NM_005763.4

p.R64P

c.191G>C