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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GCSH

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 51 variants

5 papers

chr16:81096278 T>C

NM_004483.5

p.M1V

c.1A>G

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=1, hom=0)21 overlapping SVs

4 papers

chr16:81096246 G>A

NM_004483.5

p.A11A

c.33C>T

Exome: 5.4% (AC=35894, hom=0)Genome: 0.0% (AC=67, hom=0)21 overlapping SVs

4 papers

chr16:81096217 G>A

NM_004483.5

p.S21L

c.62C>T

Exome: 64.2% (AC=671291, hom=156214)Genome: 79.7% (AC=118945, hom=48741)21 overlapping SVs

4 papers

chr16:81082964 C>A

NM_004483.5

p.G142Splc

c.425-1G>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a18 overlapping SVs

2 papers

chr16:81096276 C>A

NM_004483.5

p.M1I

c.3G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a21 overlapping SVs

2 papers

chr16:81096276 C>G

NM_004483.5

p.M1I

c.3G>C

exact variant not in gnomAD21 overlapping SVs

2 papers

chr16:81096276 C>T

NM_004483.5

p.M1I

c.3G>A

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=2, hom=0)21 overlapping SVs

2 papers

chr16:81096154 C>A

NM_004483.5

p.R42L

c.125G>T

Exome: 0.0% (AC=16, hom=0)Genome: n/a21 overlapping SVs

2 papers

chr16:81090670 G>A

NM_004483.5

p.F53F

c.159C>T

GCV_H

Exome: 6.7% (AC=96966, hom=3785)Genome: 5.7% (AC=8698, hom=257)19 overlapping SVs

2 papers

chr16:81090611 T>C

NM_004483.5

p.N73S

c.218A>G

GCV_H

Exome: 0.5% (AC=7713, hom=265)Genome: 3.5% (AC=5298, hom=248)19 overlapping SVs

2 papers

chr16:81090603 G>A

NM_004483.5

p.Q76*

c.226C>T

GCV_H

Exome: 0.0% (AC=50, hom=0)Genome: n/a19 overlapping SVs

1 paper

chr16:81096278 T>TA

NM_004483.5

p.M1insFs

c.1_2insT

exact variant not in gnomAD21 overlapping SVs

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