Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.E278E

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.E278E
c.834A>G
Surrounding Variants
1 paper
NM_000170.3
p.E278K
c.832G>A
1 paper
NM_000170.3
p.L279L
c.837C>G
2 papers
NM_000170.3
p.V280L
c.838G>C
1 paper
NM_000170.3
p.T277M
c.830C>T
1 paper
NM_000170.3
p.F276Y
c.827T>A
1 paper
NM_000170.3
p.E281G
c.842A>G
1 paper
NM_000170.3
p.R282R
c.846A>G
6 papers
NM_000170.3
p.A283P
c.847G>C
1 paper
NM_000170.3
p.E274V
c.821A>T
1 paper
NM_000170.3
p.H284Y
c.850C>T
2 papers
NM_000170.3
p.H284P
c.851A>C
1 paper
NM_000170.3
p.Q285*
c.853C>T
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