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.R94_P95del2

c.280_284del6

Surrounding Variants

1 paper

NM_005763.4

p.P95delFs

c.285delA

1 paper

NM_005763.4

p.P96L

c.287C>T

2 papers

NM_005763.4

p.V92_P96del0

c.275_286del12

1 paper

NM_005763.4

p.P95L

c.284C>T

1 paper

NM_005763.4

p.P95R

c.284C>G

2 papers

NM_005763.4

p.P96insFs

c.287dupC

1 paper

NM_005763.4

p.P95T

c.283C>A

1 paper

NM_005763.4

p.G91_R94del0

c.271_282del12

2 papers

NM_005763.4

p.R94_P95insFs

c.282_283ins4

1 paper

NM_005763.4

p.R94K

c.281G>A

1 paper

NM_005763.4

p.K93delFs

c.277delT

1 paper

NM_005763.4

p.P96_E97del1

c.288_290delTCT