Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.E167D

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.E167D
c.501G>T
Surrounding Variants
1 paper
NM_000170.3
p.E167D
c.501G>C
5 papers
NM_000170.3
p.E167E
c.501G>A
1 paper
NM_000170.3
p.V168L
c.502G>T
1 paper
NM_000170.3
p.V168L
c.502G>C
1 paper
NM_000170.3
p.V168M
c.502G>A
1 paper
NM_000170.3
p.E167V
c.500A>T
1 paper
NM_000170.3
p.E167G
c.500A>G
1 paper
NM_000170.3
p.E167A
c.500A>C
1 paper
NM_000170.3
p.V168G
c.503T>G
1 paper
NM_000170.3
p.V168A
c.503T>C
2 papers
NM_000170.3
p.V168E
c.503T>A
12 papers
NM_000170.3
p.E167*
c.499G>T
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