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.T112_I113delFs

c.334_337del4

Surrounding Variants

1 paper

NM_005763.4

p.T112insFs

c.336dupA

2 papers

NM_005763.4

p.I113V

c.337A>G

4 papers

NM_005763.4

p.I113insFs

c.337_338insT

1 paper

NM_005763.4

p.H111delFs

c.331_332delTG

1 paper

NM_005763.4

p.K114E

c.340A>G

2 papers

NM_005763.4

p.F109_T112delFs

c.325_335del11

3 papers

NM_005763.4

p.T112I

c.335C>T

1 paper

NM_005763.4

p.T112R

c.335C>G

7 papers

NM_005763.4

p.K114R

c.341A>G

1 paper

NM_005763.4

p.T112A

c.334A>G

1 paper

NM_005763.4

p.S110_H111insFs

c.330_333dup4

2 papers

NM_005763.4

p.I113_K114delFs

c.337_340del4