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

3 papers

NM_000170.3

p.V524L

c.1570G>C

Surrounding Variants

3 papers

NM_000170.3

p.V524L

c.1570G>T

1 paper

NM_000170.3

p.Q523E

c.1567C>G

1 paper

NM_000170.3

p.F525S

c.1574T>C

1 paper

NM_000170.3

p.F525Y

c.1574T>A

1 paper

NM_000170.3

p.H522N

c.1564C>A

1 paper

NM_000170.3

p.N526insFs

c.1576_1577insC

1 paper

NM_000170.3

p.T521S

c.1562C>G

2 papers

NM_000170.3

p.S527fs

c.1579_1580fs

1 paper

NM_000170.3

p.T521S

c.1561A>T

1 paper

NM_000170.3

p.S527Fs

c.1580delinsCAAFs

5 papers

NM_000170.3

p.S527Splc

c.1580+2T>G

2 papers

NM_000170.3

p.P518Q

c.1553C>A