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.W36_E37del2

c.106_110del6

Surrounding Variants

9 papers

NM_005763.4

p.R38*

c.112A>T

1 paper

NM_005763.4

p.R38insFs

c.112_113ins2

1 paper

NM_005763.4

p.R38fs

c.112_113fs

1 paper

NM_005763.4

p.R38T

c.113G>C

1 paper

NM_005763.4

p.R38K

c.113G>A

1 paper

NM_005763.4

p.R38delFs

c.112delT

1 paper

NM_005763.4

p.R38fs

c.112_113fs

2 papers

NM_005763.4

p.E37K

c.109G>A

1 paper

NM_005763.4

p.R39W

c.115A>T

1 paper

NM_005763.4

p.E37_R38insFs

c.111_112dupGA

1 paper

NM_005763.4

p.A35insFs

c.105dupC

1 paper

NM_005763.4

p.R39delFs

c.117delC