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

8 papers

NM_000170.3

p.G728R

c.2182G>C

Surrounding Variants

8 papers

NM_000170.3

p.G728R

c.2182G>A

3 papers

NM_000170.3

p.G728E

c.2183G>A

1 paper

NM_000170.3

p.G728G

c.2184G>T

1 paper

NM_000170.3

p.A729S

c.2185G>T

2 papers

NM_000170.3

p.A729_N730insTT

c.2185_2189ins6

3 papers

NM_000170.3

p.A729fs

c.2185_2186fs

1 paper

NM_000170.3

p.L726Q

c.2177T>A

1 paper

NM_000170.3

p.A729fs

c.2185_2186fs

2 papers

NM_000170.3

p.A729delFs

c.2186delG

1 paper

NM_000170.3

p.Y725*

c.2175C>G

1 paper

NM_000170.3

p.Y725*

c.2175C>A

1 paper

NM_000170.3

p.N730S

c.2189A>G