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

1 paper

NM_000170.3

p.M731T

c.2192T>C

Surrounding Variants

1 paper

NM_000170.3

p.N732I

c.2195A>T

1 paper

NM_000170.3

p.N732S

c.2195A>G

1 paper

NM_000170.3

p.N730S

c.2189A>G

1 paper

NM_000170.3

p.N732T

c.2195A>C

1 paper

NM_000170.3

p.N730T

c.2189A>C

3 papers

NM_000170.3

p.N732K

c.2196T>G

3 papers

NM_000170.3

p.N732K

c.2196T>A

1 paper

NM_000170.3

p.A733S

c.2197G>T

1 paper

NM_000170.3

p.A729fs

c.2185_2186fs

2 papers

NM_000170.3

p.A729delFs

c.2186delG

3 papers

NM_000170.3

p.A733V

c.2198C>T

2 papers

NM_000170.3

p.A733D

c.2198C>A