Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.A389V

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
18 papers
NM_000170.3
p.A389V
c.1166C>T
Surrounding Variants
1 paper
NM_000170.3
p.A389E
c.1166C>A
1 paper
NM_000170.3
p.A389P
c.1165G>C
1 paper
NM_000170.3
p.L387L
c.1161C>G
1 paper
NM_000170.3
p.M391I
c.1173G>T
1 paper
NM_000170.3
p.M391I
c.1173G>C
1 paper
NM_000170.3
p.M391I
c.1173G>A
1 paper
NM_000170.3
p.A392fs
c.1174_1175fs
1 paper
NM_000170.3
p.A392delFs
c.1175delG
1 paper
NM_000170.3
p.A392_A393del1
c.1176_1178delGCA
1 paper
NM_000170.3
p.M394V
c.1180A>G
1 paper
NM_000170.3
p.M394I
c.1182G>T
1 paper
NM_000170.3
p.M394I
c.1182G>C
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