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

10 papers

NM_000170.3

p.T269M

c.806C>T

Surrounding Variants

1 paper

NM_000170.3

p.T269T

c.807G>A

1 paper

NM_000170.3

p.E270*

c.808G>T

1 paper

NM_000170.3

p.E270G

c.809A>G

3 papers

NM_000170.3

p.G271R

c.811G>C

3 papers

NM_000170.3

p.G271R

c.811G>A

4 papers

NM_000170.3

p.P267L

c.800C>T

3 papers

NM_000170.3

p.P267S

c.799C>T

4 papers

NM_000170.3

p.P267A

c.799C>G

2 papers

NM_000170.3

p.Y266D

c.796T>G

1 paper

NM_000170.3

p.Q265fs

c.793_794fs

4 papers

NM_000170.3

p.Q265L

c.794A>T

2 papers

NM_000170.3

p.Q265delFs

c.793delG