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.L133P

c.398T>C

Surrounding Variants

7 papers

NM_005763.4

p.L133F

c.397C>T

1 paper

NM_005763.4

p.L133insFs

c.399dupT

2 papers

NM_005763.4

p.R132L

c.395G>T

4 papers

NM_005763.4

p.R132H

c.395G>A

1 paper

NM_005763.4

p.R132delFs

c.394delG

3 papers

NM_005763.4

p.R132C

c.394C>T

1 paper

NM_005763.4

p.R132G

c.394C>G

1 paper

NM_005763.4

p.R132S

c.394C>A

2 papers

NM_005763.4

p.I131delFs

c.392delA

1 paper

NM_005763.4

p.D135_Y136ins13

c.403_407ins39

1 paper

NM_005763.4

p.D135H

c.403G>C

1 paper

NM_005763.4

p.D135N

c.403G>A