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.L173P

c.518T>C

Surrounding Variants

1 paper

NM_000170.3

p.L173R

c.518T>G

1 paper

NM_000170.3

p.L173Q

c.518T>A

1 paper

NM_000170.3

p.L173V

c.517C>G

1 paper

NM_000170.3

p.L173M

c.517C>A

1 paper

NM_000170.3

p.R172S

c.516G>T

1 paper

NM_000170.3

p.E174Q

c.520G>C

1 paper

NM_000170.3

p.R172S

c.516G>C

1 paper

NM_000170.3

p.E174K

c.520G>A

1 paper

NM_000170.3

p.R172M

c.515G>T

1 paper

NM_000170.3

p.R172T

c.515G>C

2 papers

NM_000170.3

p.R172K

c.515G>A

1 paper

NM_000170.3

p.E174V

c.521A>T