Varaico: Literature-Extracted Genetic Variants

GLDC

361 papers

RefSeq Summary

Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H...

Pfam Domains

GDC-Paa 65–488UCSCGlycine cleavage system P-protein

Beta_elim_lyaseaa 585–747UCSCBeta-eliminating lyase

GcvP2_Caa 829–950UCSCGlycine dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

glycine decarboxylase

HGNC Alias Symbols

GCSP; NKH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000170.3

p.D198V

c.593A>T

Surrounding Variants

2 papers

NM_000170.3

p.D198E

c.594T>G

2 papers

NM_000170.3

p.D198E

c.594T>A

1 paper

NM_000170.3

p.E199Q

c.595G>C

2 papers

NM_000170.3

p.L197V

c.589C>G

1 paper

NM_000170.3

p.L196P

c.587T>C

1 paper

NM_000170.3

p.L196Q

c.587T>A

1 paper

NM_000170.3

p.L196L

c.586C>T

1 paper

NM_000170.3

p.L196V

c.586C>G

1 paper

NM_000170.3

p.L196M

c.586C>A

1 paper

NM_000170.3

p.T201fs

c.601_602fs

1 paper

NM_000170.3

p.T201S

c.601A>T

2 papers

NM_000170.3

p.G200delFs

c.600delC