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.E117G

c.350A>G

Surrounding Variants

3 papers

NM_005763.4

p.E117Q

c.349G>C

1 paper

NM_005763.4

p.A118S

c.352G>T

1 paper

NM_005763.4

p.A118T

c.352G>A

4 papers

NM_005763.4

p.A118delFs

c.352delC

1 paper

NM_005763.4

p.Q116_A118delFs

c.348_352del5

1 paper

NM_005763.4

p.Q116insFs

c.347_348insC

1 paper

NM_005763.4

p.A118delFs

c.353delG

1 paper

NM_005763.4

p.A115V

c.344C>T

1 paper

NM_005763.4

p.K114delFs

c.341_342delTT

1 paper

NM_005763.4

p.M120_G121insC

c.358_362ins3

2 papers

NM_005763.4

p.I113_K114delFs

c.337_340del4

7 papers

NM_005763.4

p.K114R

c.341A>G