Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.D746E

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
2 papers
NM_000170.3
p.D746E
c.2238T>A
Surrounding Variants
2 papers
NM_000170.3
p.D746E
c.2238T>G
1 paper
NM_000170.3
p.V747F
c.2239G>T
1 paper
NM_000170.3
p.V747L
c.2239G>C
1 paper
NM_000170.3
p.V747I
c.2239G>A
1 paper
NM_000170.3
p.D746V
c.2237A>T
1 paper
NM_000170.3
p.D746G
c.2237A>G
2 papers
NM_000170.3
p.D746H
c.2236G>C
1 paper
NM_000170.3
p.S748A
c.2242T>G
1 paper
NM_000170.3
p.S748P
c.2242T>C
1 paper
NM_000170.3
p.S748T
c.2242T>A
1 paper
NM_000170.3
p.S745F
c.2234C>T
1 paper
NM_000170.3
p.S745C
c.2234C>G
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