Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.R172K

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.R172K
c.515G>A
Surrounding Variants
1 paper
NM_000170.3
p.R172M
c.515G>T
1 paper
NM_000170.3
p.R172T
c.515G>C
1 paper
NM_000170.3
p.R172S
c.516G>T
1 paper
NM_000170.3
p.R172S
c.516G>C
1 paper
NM_000170.3
p.R172W
c.514A>T
1 paper
NM_000170.3
p.R172G
c.514A>G
1 paper
NM_000170.3
p.G171G
c.513G>C
1 paper
NM_000170.3
p.L173V
c.517C>G
1 paper
NM_000170.3
p.L173M
c.517C>A
1 paper
NM_000170.3
p.L173R
c.518T>G
3 papers
NM_000170.3
p.L173P
c.518T>C
1 paper
NM_000170.3
p.L173Q
c.518T>A
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