Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.P166H

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.P166H
c.497C>A
Surrounding Variants
1 paper
NM_000170.3
p.P166L
c.497C>T
1 paper
NM_000170.3
p.P166R
c.497C>G
1 paper
NM_000170.3
p.P166P
c.498T>C
2 papers
NM_000170.3
p.P166S
c.496C>T
1 paper
NM_000170.3
p.P166A
c.496C>G
1 paper
NM_000170.3
p.P166T
c.496C>A
12 papers
NM_000170.3
p.E167*
c.499G>T
1 paper
NM_000170.3
p.Q165H
c.495G>T
1 paper
NM_000170.3
p.E167Q
c.499G>C
1 paper
NM_000170.3
p.Q165H
c.495G>C
1 paper
NM_000170.3
p.E167K
c.499G>A
1 paper
NM_000170.3
p.E167V
c.500A>T
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