Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.L197V

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.L197V
c.589C>G
Surrounding Variants
1 paper
NM_000170.3
p.L196P
c.587T>C
1 paper
NM_000170.3
p.L196Q
c.587T>A
1 paper
NM_000170.3
p.L196L
c.586C>T
1 paper
NM_000170.3
p.L196V
c.586C>G
1 paper
NM_000170.3
p.L196M
c.586C>A
3 papers
NM_000170.3
p.D198V
c.593A>T
2 papers
NM_000170.3
p.D198E
c.594T>G
2 papers
NM_000170.3
p.D198E
c.594T>A
1 paper
NM_000170.3
p.S195F
c.584C>T
1 paper
NM_000170.3
p.S195C
c.584C>G
1 paper
NM_000170.3
p.S195Y
c.584C>A
1 paper
NM_000170.3
p.S195A
c.583T>G
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