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.L9L

c.25C>T

Surrounding Variants

1 paper

NM_005763.4

p.L9V

c.25C>G

1 paper

NM_005763.4

p.L9Q

c.26T>A

1 paper

NM_005763.4

p.G8insFs

c.23dupG

1 paper

NM_005763.4

p.M1_G8delFs

c.3_22del20

1 paper

NM_005763.4

p.T7_G8Fs

c.20_22delinsCFs

1 paper

NM_005763.4

p.R6_T7delFs

c.18_21del4

1 paper

NM_005763.4

p.G8insFs

c.22_23insC

1 paper

NM_005763.4

p.G8R

c.22G>C

2 papers

NM_005763.4

p.T7delFs

c.21delA

1 paper

NM_005763.4

p.T7Fs

c.20delinsCCFs

1 paper

NM_005763.4

p.T7I

c.20C>T

1 paper

NM_005763.4

p.G10delFs

c.28delC