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

5 papers

NM_005763.4

p.M1T

c.2T>C

Surrounding Variants

3 papers

NM_005763.4

p.M1R

c.2T>G

2 papers

NM_005763.4

p.M1K

c.2T>A

1 paper

NM_005763.4

p.M1delFs

c.1delT

3 papers

NM_005763.4

p.M1I

c.3G>T

2 papers

NM_005763.4

p.M1insFs

c.2dupT

1 paper

NM_005763.4

p.M1insFs

c.1_2dupAT

1 paper

NM_005763.4

p.M1fs

c.1_2fs

2 papers

NM_005763.4

p.M1I

c.3G>C

3 papers

NM_005763.4

p.M1I

c.3G>A

4 papers

NM_005763.4

p.M1L

c.1A>T

5 papers

NM_005763.4

p.M1V

c.1A>G

2 papers

NM_005763.4

p.M1L

c.1A>C