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

10 papers

NM_005763.4

p.V92F

c.274G>T

Surrounding Variants

1 paper

NM_005763.4

p.L88_G91delFs

c.264_273del10

1 paper

NM_005763.4

p.G91del1

c.271_273delTCC

1 paper

NM_005763.4

p.G91R

c.271G>C

3 papers

NM_005763.4

p.G91R

c.271G>A

1 paper

NM_005763.4

p.I89_L90del2

c.265_269del6

1 paper

NM_005763.4

p.L90L

c.270A>G

1 paper

NM_005763.4

p.I89_L90del1

c.266_268delAAA

2 papers

NM_005763.4

p.L90S

c.269T>C

1 paper

NM_005763.4

p.L90*

c.269T>A

1 paper

NM_005763.4

p.V92_K93del1

c.276_278delTTA

1 paper

NM_005763.4

p.L90I

c.268T>A

1 paper

NM_005763.4

p.V92_K93del0

c.274_279del6