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.F254L

c.762C>G

Surrounding Variants

1 paper

NM_000170.3

p.F254L

c.762C>A

1 paper

NM_000170.3

p.F254L

c.760T>C

1 paper

NM_000170.3

p.F254I

c.760T>A

2 papers

NM_000170.3

p.G256R

c.766G>C

1 paper

NM_000170.3

p.K257R

c.770A>G

1 paper

NM_000170.3

p.E251Q

c.751G>C

2 papers

NM_000170.3

p.G261E

c.782G>A

1 paper

NM_000170.3

p.E245V

c.734A>T

1 paper

NM_000170.3

p.E245G

c.734A>G

1 paper

NM_000170.3

p.T244insFs

c.731dupC

1 paper

NM_000170.3

p.F264_Q265insFs

c.792_793insG

1 paper

NM_000170.3

p.Q265*

c.793C>T