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.H46P

c.137A>C

Surrounding Variants

2 papers

NM_005763.4

p.H46R

c.137A>G

7 papers

NM_005763.4

p.H46Y

c.136C>T

3 papers

NM_005763.4

p.H46D

c.136C>G

1 paper

NM_005763.4

p.K45_H46insFs

c.135_136ins13

1 paper

NM_005763.4

p.I47V

c.139A>G

1 paper

NM_005763.4

p.H46delFs

c.136_137delTG

1 paper

NM_005763.4

p.P44_I47del0

c.131_139del9

1 paper

NM_005763.4

p.I47M

c.141C>G

1 paper

NM_005763.4

p.K48I

c.143A>T

1 paper

NM_005763.4

p.P44S

c.130C>T

1 paper

NM_005763.4

p.K48N

c.144A>T

1 paper

NM_005763.4

p.K48N

c.144A>C