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.L2Fs

c.5delinsAAAFs

Surrounding Variants

1 paper

NM_005763.4

p.L2delins

c.5delinsGAAA

1 paper

NM_005763.4

p.L2_Q3insFs

c.6_7insTT

1 paper

NM_005763.4

p.M1insFs

c.3dupG

3 papers

NM_005763.4

p.M1I

c.3G>T

2 papers

NM_005763.4

p.M1insFs

c.2dupT

1 paper

NM_005763.4

p.M1insFs

c.1_2dupAT

1 paper

NM_005763.4

p.M1fs

c.1_2fs

2 papers

NM_005763.4

p.M1I

c.3G>C

3 papers

NM_005763.4

p.M1I

c.3G>A

1 paper

NM_005763.4

p.Q3Fs

c.7delinsTGGGTAGGGFs

1 paper

NM_005763.4

p.L2delFs

c.6delC

3 papers

NM_005763.4

p.M1R

c.2T>G