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

11 papers

NM_000170.3

p.R790W

c.2368C>T

Surrounding Variants

1 paper

NM_000170.3

p.R790Q

c.2369G>A

1 paper

NM_000170.3

p.E792_D793insG

c.2374_2378ins3

1 paper

NM_000170.3

p.L788V

c.2362C>G

2 papers

NM_000170.3

p.E792D

c.2376G>T

2 papers

NM_000170.3

p.E792D

c.2376G>C

4 papers

NM_000170.3

p.A794T

c.2380G>A

2 papers

NM_000170.3

p.C795S

c.2383T>A

2 papers

NM_000170.3

p.C795S

c.2384G>C

1 paper

NM_000170.3

p.H783Y

c.2347C>T

1 paper

NM_000170.3

p.H783D

c.2347C>G

1 paper

NM_000170.3

p.H783N

c.2347C>A

1 paper

NM_000170.3

p.P781S

c.2341C>T