Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.I818S

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.I818S
c.2453T>G
Surrounding Variants
1 paper
NM_000170.3
p.I818T
c.2453T>C
1 paper
NM_000170.3
p.I818N
c.2453T>A
1 paper
NM_000170.3
p.I818F
c.2452A>T
2 papers
NM_000170.3
p.K819E
c.2455A>G
3 papers
NM_000170.3
p.Y817C
c.2450A>G
3 papers
NM_000170.3
p.K819_M820Splc
c.2457+2T>A
2 papers
NM_000170.3
p.A816T
c.2446G>A
3 papers
NM_000170.3
p.S814F
c.2441C>T
1 paper
NM_000170.3
p.S814C
c.2441C>G
1 paper
NM_000170.3
p.S814Y
c.2441C>A
1 paper
NM_000170.3
p.S814P
c.2440T>C
1 paper
NM_000170.3
p.I813F
c.2437A>T
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