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

2 papers

NM_005763.4

p.E85ins0

c.253_255dupGAA

Surrounding Variants

2 papers

NM_005763.4

p.A86V

c.257C>T

1 paper

NM_005763.4

p.A86G

c.257C>G

1 paper

NM_005763.4

p.E85_A86insFs

c.253_256dup4

1 paper

NM_005763.4

p.A86ins1

c.256_257insTTT

1 paper

NM_005763.4

p.E85delFs

c.255delT

1 paper

NM_005763.4

p.S84_E85del1

c.252_254delTCA

1 paper

NM_005763.4

p.A86_C87del1

c.257_259delAAG

2 papers

NM_005763.4

p.C87delFs

c.260delC

2 papers

NM_005763.4

p.S84S

c.252T>G

1 paper

NM_005763.4

p.L88_I89ins4

c.262_266ins12

1 paper

NM_005763.4

p.L88Q

c.263T>A

1 paper

NM_005763.4

p.E81_L88delFs

c.241_262del22