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

28 papers

NM_000170.3

p.R515S

c.1545G>C

Surrounding Variants

24 papers

NM_000170.3

p.R515S

c.1545G>T

2 papers

NM_000170.3

p.R515R

c.1545G>A

1 paper

NM_000170.3

p.T516I

c.1547C>T

1 paper

NM_000170.3

p.T516S

c.1547C>G

1 paper

NM_000170.3

p.T516N

c.1547C>A

1 paper

NM_000170.3

p.K514R

c.1541A>G

1 paper

NM_000170.3

p.S517T

c.1550G>C

1 paper

NM_000170.3

p.K514Q

c.1540A>C

2 papers

NM_000170.3

p.P518Q

c.1553C>A

2 papers

NM_000170.3

p.V512G

c.1535T>G

1 paper

NM_000170.3

p.V512L

c.1534G>T

1 paper

NM_000170.3

p.V512L

c.1534G>C