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

9 papers

NM_005763.4

p.H22Y

c.64C>T

Surrounding Variants

1 paper

NM_005763.4

p.H22_K23insC

c.64_68ins3

1 paper

NM_005763.4

p.K18_H21del4

c.52_62del12

1 paper

NM_005763.4

p.H21_H22ins2

c.63_64ins6

1 paper

NM_005763.4

p.H22R

c.65A>G

1 paper

NM_005763.4

p.H22ins1

c.65_66insTGG

1 paper

NM_005763.4

p.H21insFs

c.63dupC

1 paper

NM_005763.4

p.H22insFs

c.65_66ins4

1 paper

NM_005763.4

p.L20fs

c.58_59fs

1 paper

NM_005763.4

p.L20L

c.60T>A

1 paper

NM_005763.4

p.L20P

c.59T>C

1 paper

NM_005763.4

p.L20fs

c.58_59fs

1 paper

NM_005763.4

p.K23delFs

c.68delT