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.I50I

c.150C>T

Surrounding Variants

2 papers

NM_005763.4

p.I50insFs

c.149dupT

1 paper

NM_005763.4

p.I50I

c.150C>A

1 paper

NM_005763.4

p.I50_T51insFs

c.148_151dup4

1 paper

NM_005763.4

p.G49insFs

c.147dupC

1 paper

NM_005763.4

p.G49_I50insFs

c.147_148insA

1 paper

NM_005763.4

p.G49A

c.146G>C

1 paper

NM_005763.4

p.G49D

c.146G>A

2 papers

NM_005763.4

p.N52Y

c.154A>T

1 paper

NM_005763.4

p.K48insFs

c.143_144dupAA

1 paper

NM_005763.4

p.N52I

c.155A>T

1 paper

NM_005763.4

p.N52S

c.155A>G

1 paper

NM_005763.4

p.N52delFs

c.154delT