Varaico: Literature-Extracted Genetic Variants

Gene:GCSH
Variant:p.L3M

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
1 paper
NM_004483.5
p.L3M
c.7C>A
Surrounding Variants
2 papers
NM_004483.5
p.M1I
c.3G>T
1 paper
NM_004483.5
p.M1insFs
c.2_3insT
2 papers
NM_004483.5
p.M1I
c.3G>C
2 papers
NM_004483.5
p.M1I
c.3G>A
5 papers
NM_004483.5
p.M1V
c.1A>G
1 paper
NM_004483.5
p.M1insFs
c.1_2insT
1 paper
NM_004483.5
p.V6_R7insFs
c.18_19insA
1 paper
NM_004483.5
p.V6V
c.18G>C
1 paper
NM_004483.5
p.V9M
c.25G>A
4 papers
NM_004483.5
p.A11A
c.33C>T
1 paper
NM_004483.5
p.A18T
c.52G>A
1 paper
NM_004483.5
p.A18V
c.53C>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."