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

1–12 of 2135 variants

31 papers

NM_000170.3

p.S564I

c.1691G>T

28 papers

NM_000170.3

p.R515S

c.1545G>C

26 papers

NM_000170.3

p.A802V

c.2405C>T

24 papers

NM_000170.3

p.R515S

c.1545G>T

18 papers

NM_000170.3

p.A389V

c.1166C>T

15 papers

NM_000170.3

p.R739H

c.2216G>A

12 papers

NM_000170.3

p.E167*

c.499G>T

11 papers

NM_000170.3

p.V705M

c.2113G>A

11 papers

NM_000170.3

p.G761R

c.2281G>C

11 papers

NM_000170.3

p.G761R

c.2281G>A

11 papers

NM_000170.3

p.R790W

c.2368C>T

10 papers

NM_000170.3

p.T269M

c.806C>T