Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.Y164*

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.Y164*
c.492C>G
Surrounding Variants
1 paper
NM_000170.3
p.Y164*
c.492C>A
1 paper
NM_000170.3
p.Q165E
c.493C>G
1 paper
NM_000170.3
p.Q165K
c.493C>A
1 paper
NM_000170.3
p.Y164F
c.491A>T
1 paper
NM_000170.3
p.Y164C
c.491A>G
1 paper
NM_000170.3
p.Y164S
c.491A>C
1 paper
NM_000170.3
p.Y164D
c.490T>G
3 papers
NM_000170.3
p.Y164H
c.490T>C
1 paper
NM_000170.3
p.Y164N
c.490T>A
1 paper
NM_000170.3
p.Q165L
c.494A>T
1 paper
NM_000170.3
p.Q165R
c.494A>G
1 paper
NM_000170.3
p.Q165P
c.494A>C
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