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.G19insFs

c.55_56dupGG

Surrounding Variants

1 paper

NM_005763.4

p.L20fs

c.58_59fs

2 papers

NM_005763.4

p.G19V

c.56G>T

1 paper

NM_005763.4

p.G19delFs

c.57delA

1 paper

NM_005763.4

p.L20P

c.59T>C

1 paper

NM_005763.4

p.G19S

c.55G>A

1 paper

NM_005763.4

p.L20fs

c.58_59fs

1 paper

NM_005763.4

p.L20L

c.60T>A

3 papers

NM_005763.4

p.K18_G19insFs

c.54_55insC

2 papers

NM_005763.4

p.K18insFs

c.53dupA

1 paper

NM_005763.4

p.K18R

c.53A>G

1 paper

NM_005763.4

p.L16_K18insFs

c.46_52dup7

1 paper

NM_005763.4

p.K18E

c.52A>G