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.A40_L42delFs

c.119_125del7

Surrounding Variants

3 papers

NM_005763.4

p.A43P

c.127G>C

1 paper

NM_005763.4

p.A43T

c.127G>A

1 paper

NM_005763.4

p.L42delFs

c.126delT

1 paper

NM_005763.4

p.L42L

c.124C>T

1 paper

NM_005763.4

p.A40_A43delFs

c.120_127del8

6 papers

NM_005763.4

p.P41insFs

c.122dupC

2 papers

NM_005763.4

p.P41fs

c.121_122fs

1 paper

NM_005763.4

p.P44S

c.130C>T

1 paper

NM_005763.4

p.R39delFs

c.117delC

1 paper

NM_005763.4

p.K45_H46insFs

c.135_136ins13

7 papers

NM_005763.4

p.H46Y

c.136C>T

3 papers

NM_005763.4

p.H46D

c.136C>G