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.E81E

c.243G>A

Surrounding Variants

2 papers

NM_005763.4

p.E81delFs

c.242delT

2 papers

NM_005763.4

p.I78_E81del0

c.234_242del9

1 paper

NM_005763.4

p.I78_E81delFs

c.234_243del10

1 paper

NM_005763.4

p.E81Q

c.241G>C

1 paper

NM_005763.4

p.E81K

c.241G>A

1 paper

NM_005763.4

p.I83S

c.248T>G

1 paper

NM_005763.4

p.I83T

c.248T>C

1 paper

NM_005763.4

p.Q80_E81insTGG

c.238_242ins9

1 paper

NM_005763.4

p.L79P

c.236T>C

1 paper

NM_005763.4

p.S84F

c.251C>T

1 paper

NM_005763.4

p.L79F

c.235C>T

1 paper

NM_005763.4

p.I83delFs

c.248_249delAA