Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.K754R

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.K754R
c.2261A>G
Surrounding Variants
1 paper
NM_000170.3
p.K754M
c.2261A>T
1 paper
NM_000170.3
p.K754T
c.2261A>C
4 papers
NM_000170.3
p.H753P
c.2258A>C
1 paper
NM_000170.3
p.L752R
c.2255T>G
1 paper
NM_000170.3
p.L752H
c.2255T>A
4 papers
NM_000170.3
p.F756del1
c.2266_2267delGAA
1 paper
NM_000170.3
p.P759S
c.2275C>T
2 papers
NM_000170.3
p.P759R
c.2276C>G
1 paper
NM_000170.3
p.S748W
c.2243C>G
2 papers
NM_000170.3
p.H760R
c.2279A>G
2 papers
NM_000170.3
p.H760P
c.2279A>C
1 paper
NM_000170.3
p.S748A
c.2242T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."