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

1–12 of 1077 variants

10 papers

NM_005763.4

p.V92F

c.274G>T

9 papers

NM_005763.4

p.H22Y

c.64C>T

9 papers

NM_005763.4

p.R38*

c.112A>T

9 papers

NM_005763.4

p.M139T

c.416T>C

8 papers

NM_005763.4

p.R65Q

c.194G>A

8 papers

NM_005763.4

p.L127R

c.380T>G

7 papers

NM_005763.4

p.H46Y

c.136C>T

7 papers

NM_005763.4

p.K114R

c.341A>G

7 papers

NM_005763.4

p.L133F

c.397C>T

7 papers

NM_005763.4

p.V140L

c.418G>T

6 papers

NM_005763.4

p.P41insFs

c.122dupC

5 papers

NM_005763.4

p.M1V

c.1A>G