Varaico: Literature-Extracted Genetic Variants

Gene:GCSH
Variant:p.N73S

GCSH

55 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

GCV_Haa 51–171UCSCGlycine cleavage H-protein

Gene Aliases

HGNC Name

glycine cleavage system protein H

HGNC Previous Name

glycine cleavage system protein H (aminomethyl carrier)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004483.5
p.N73S
c.218A>G
Surrounding Variants
1 paper
NM_004483.5
p.N73T
c.218A>C
2 papers
NM_004483.5
p.Q76*
c.226C>T
1 paper
NM_004483.5
p.G70R
c.208G>C
1 paper
NM_004483.5
p.G70R
c.208G>A
1 paper
NM_004483.5
p.T68R
c.203C>G
1 paper
NM_004483.5
p.E63D
c.189A>T
1 paper
NM_004483.5
p.E63D
c.189A>C
1 paper
NM_004483.5
p.E63Q
c.187G>C
1 paper
NM_004483.5
p.E58*
c.172G>T
1 paper
NM_004483.5
p.H57R
c.170A>G
2 papers
NM_004483.5
p.F53F
c.159C>T
1 paper
NM_004483.5
p.V82F
c.244G>T
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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."