Varaico: Literature-Extracted Genetic Variants

Gene:GCSH
Variant:p.P88S

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.P88S
c.262C>T
Surrounding Variants
1 paper
NM_004483.5
p.L87L
c.261C>G
1 paper
NM_004483.5
p.Y84Y
c.252T>C
1 paper
NM_004483.5
p.V82F
c.244G>T
1 paper
NM_004483.5
p.V82_V83ins8
c.244_248ins24
2 papers
NM_004483.5
p.Q76*
c.226C>T
2 papers
NM_004483.5
p.N73S
c.218A>G
1 paper
NM_004483.5
p.N73T
c.218A>C
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
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