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.S808R

c.2424T>G

Surrounding Variants

2 papers

NM_000170.3

p.S808fs

c.2422_2423fs

3 papers

NM_000170.3

p.S808R

c.2424T>A

3 papers

NM_000170.3

p.S808I

c.2423G>T

2 papers

NM_000170.3

p.S808delFs

c.2422delT

3 papers

NM_000170.3

p.S808R

c.2422A>C

1 paper

NM_000170.3

p.S807Y

c.2420C>A

3 papers

NM_000170.3

p.G806R

c.2416G>C

2 papers

NM_000170.3

p.W805*

c.2415G>A

2 papers

NM_000170.3

p.W805*

c.2414G>A

1 paper

NM_000170.3

p.P812R

c.2435C>G

1 paper

NM_000170.3

p.P812H

c.2435C>A

1 paper

NM_000170.3

p.I813F

c.2437A>T