Varaico: Literature-Extracted Genetic Variants

Gene:GCSH
Variant:p.G142Splc

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.G142Splc
c.424+522T>G
Surrounding Variants
1 paper
NM_004483.5
p.P131L
c.392C>T
1 paper
NM_004483.5
p.L127F
c.379C>T
1 paper
NM_004483.5
p.E125_A126delFs
c.375_376delCT
1 paper
NM_004483.5
p.P115L
c.344C>T
1 paper
NM_004483.5
p.E111*
c.331G>T
1 paper
NM_004483.5
p.A108P
c.322G>C
1 paper
NM_004483.5
p.D98Splc
c.293-1G>T
1 paper
NM_004483.5
p.G142Splc
c.425-8G>C
4 papers
NM_004483.5
p.G142Splc
c.425-1G>T
1 paper
NM_004483.5
p.T148P
c.442A>C
1 paper
NM_004483.5
p.L149P
c.446T>C
1 paper
NM_004483.5
p.P88S
c.262C>T
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