Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.S564R

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.S564R
c.1690A>C
Surrounding Variants
1 paper
NM_000170.3
p.S564C
c.1690A>T
1 paper
NM_000170.3
p.S564G
c.1690A>G
31 papers
NM_000170.3
p.S564I
c.1691G>T
1 paper
NM_000170.3
p.N563K
c.1689C>G
2 papers
NM_000170.3
p.L562P
c.1685T>C
1 paper
NM_000170.3
p.S566Y
c.1697C>A
1 paper
NM_000170.3
p.M560T
c.1679T>C
3 papers
NM_000170.3
p.M560V
c.1678A>G
1 paper
NM_000170.3
p.T559I
c.1676C>T
2 papers
NM_000170.3
p.T559N
c.1676C>A
7 papers
NM_000170.3
p.A569T
c.1705G>A
1 paper
NM_000170.3
p.C558*
c.1674C>A
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