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.T105_Y106del1

c.314_316delAAG

Surrounding Variants

1 paper

NM_005763.4

p.Y106C

c.317A>G

1 paper

NM_005763.4

p.Y106delFs

c.317delT

1 paper

NM_005763.4

p.A107T

c.319G>A

1 paper

NM_005763.4

p.T105S

c.313A>T

1 paper

NM_005763.4

p.A107A

c.321A>G

2 papers

NM_005763.4

p.T105P

c.313A>C

1 paper

NM_005763.4

p.K104_F108delins

c.312_322delinsAT

1 paper

NM_005763.4

p.F108L

c.322T>C

1 paper

NM_005763.4

p.F108I

c.322T>A

1 paper

NM_005763.4

p.K104_T105insFs

c.312_313ins7

1 paper

NM_005763.4

p.F108S

c.323T>C

1 paper

NM_005763.4

p.K104R

c.311A>G