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.G144delFs

c.430delC

Surrounding Variants

1 paper

NM_005763.4

p.G144fs

c.430_431fs

1 paper

NM_005763.4

p.V145I

c.433G>A

2 papers

NM_005763.4

p.R146W

c.436C>T

1 paper

NM_005763.4

p.V145delFs

c.435delT

1 paper

NM_005763.4

p.R146L

c.437G>T

1 paper

NM_005763.4

p.V147_V148insA

c.439_443ins3

2 papers

NM_005763.4

p.H142L

c.425A>T

1 paper

NM_005763.4

p.H142Y

c.424C>T

1 paper

NM_005763.4

p.H142D

c.424C>G

1 paper

NM_005763.4

p.V148M

c.442G>A

1 paper

NM_005763.4

p.V147delFs

c.441delT

1 paper

NM_005763.4

p.V145_R146del0

c.433_438del6