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.S110insFs

c.328_329insG

Surrounding Variants

1 paper

NM_005763.4

p.S110_H111insCGG

c.328_332ins9

2 papers

NM_005763.4

p.S110T

c.328T>A

1 paper

NM_005763.4

p.S110_H111ins9

c.330_331ins27

1 paper

NM_005763.4

p.H111D

c.331C>G

1 paper

NM_005763.4

p.F108L

c.324T>G

1 paper

NM_005763.4

p.F108L

c.324T>A

1 paper

NM_005763.4

p.S110_H111delFs

c.330_331delGG

1 paper

NM_005763.4

p.F108S

c.323T>C

1 paper

NM_005763.4

p.F108L

c.322T>C

1 paper

NM_005763.4

p.F108I

c.322T>A

1 paper

NM_005763.4

p.T112A

c.334A>G

1 paper

NM_005763.4

p.S110_H111insFs

c.330_333dup4