Varaico: Literature-Extracted Genetic Variants

GLDC

361 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

GDC-Paa 65–488UCSCGlycine cleavage system P-protein

Beta_elim_lyaseaa 585–747UCSCBeta-eliminating lyase

GcvP2_Caa 829–950UCSCGlycine dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

glycine decarboxylase

HGNC Alias Symbols

GCSP; NKH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000170.3

p.D712E

c.2136C>A

Surrounding Variants

1 paper

NM_000170.3

p.D712E

c.2136C>G

4 papers

NM_000170.3

p.V713M

c.2137G>A

1 paper

NM_000170.3

p.D712N

c.2134G>A

2 papers

NM_000170.3

p.C714R

c.2140T>C

1 paper

NM_000170.3

p.I710S

c.2129T>G

3 papers

NM_000170.3

p.N709S

c.2126A>G

3 papers

NM_000170.3

p.L716H

c.2147T>A

1 paper

NM_000170.3

p.E708V

c.2123A>T

3 papers

NM_000170.3

p.I717V

c.2149A>G

2 papers

NM_000170.3

p.I717N

c.2150T>A

1 paper

NM_000170.3

p.H718fs

c.2152_2153fs

1 paper

NM_000170.3

p.Q719delins

c.2155delinsTCCTGGTTTA