Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.L189R

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.L189R
c.566T>G
Surrounding Variants
1 paper
NM_000170.3
p.L189P
c.566T>C
1 paper
NM_000170.3
p.L189Q
c.566T>A
1 paper
NM_000170.3
p.L189V
c.565C>G
1 paper
NM_000170.3
p.L189M
c.565C>A
1 paper
NM_000170.3
p.D190Y
c.568G>T
1 paper
NM_000170.3
p.D190H
c.568G>C
1 paper
NM_000170.3
p.D190N
c.568G>A
1 paper
NM_000170.3
p.G188V
c.563G>T
1 paper
NM_000170.3
p.G188A
c.563G>C
1 paper
NM_000170.3
p.G188D
c.563G>A
7 papers
NM_000170.3
p.D190V
c.569A>T
1 paper
NM_000170.3
p.D190G
c.569A>G
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