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

2 papers

NM_005763.4

p.Y55H

c.163T>C

Surrounding Variants

1 paper

NM_005763.4

p.Y55C

c.164A>G

1 paper

NM_005763.4

p.Y55S

c.164A>C

2 papers

NM_005763.4

p.Y55*

c.165C>G

2 papers

NM_005763.4

p.Y55*

c.165C>A

1 paper

NM_005763.4

p.K56delFs

c.166delT

1 paper

NM_005763.4

p.V57F

c.169G>T

1 paper

NM_005763.4

p.V57L

c.169G>C

1 paper

NM_005763.4

p.V57I

c.169G>A

1 paper

NM_005763.4

p.V57D

c.170T>A

1 paper

NM_005763.4

p.K56_V57delFs

c.168_169delCC

1 paper

NM_005763.4

p.N52delFs

c.154delT

1 paper

NM_005763.4

p.N52delFs

c.154_155delTT