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

2 papers

NM_000170.3

p.A694_M696delFs

c.2081_2088del8

Surrounding Variants

1 paper

NM_000170.3

p.T698A

c.2092A>G

3 papers

NM_000170.3

p.T698I

c.2093C>T

1 paper

NM_000170.3

p.A694fs

c.2080_2081fs

4 papers

NM_000170.3

p.A694P

c.2080G>C

5 papers

NM_000170.3

p.P700A

c.2098C>G

3 papers

NM_000170.3

p.S701F

c.2102C>T

1 paper

NM_000170.3

p.T702I

c.2105C>T

1 paper

NM_000170.3

p.N691I

c.2072A>T

1 paper

NM_000170.3

p.N691T

c.2072A>C

1 paper

NM_000170.3

p.N703Y

c.2107A>T

1 paper

NM_000170.3

p.N703D

c.2107A>G

1 paper

NM_000170.3

p.N703H

c.2107A>C