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.C738S

c.2213G>C

Surrounding Variants

2 papers

NM_000170.3

p.C738S

c.2212T>A

1 paper

NM_000170.3

p.C738delFs

c.2213_2214delAC

15 papers

NM_000170.3

p.R739H

c.2216G>A

1 paper

NM_000170.3

p.I737F

c.2209A>T

1 paper

NM_000170.3

p.I737L

c.2209A>C

1 paper

NM_000170.3

p.G741V

c.2222G>T

5 papers

NM_000170.3

p.V735L

c.2203G>T

4 papers

NM_000170.3

p.V735L

c.2203G>C

1 paper

NM_000170.3

p.Q734_V735Splc

c.2203-2A>T

4 papers

NM_000170.3

p.Q734_V735Splc

c.2203-2A>G

1 paper

NM_000170.3

p.F743L

c.2227T>C

1 paper

NM_000170.3

p.G744W

c.2230G>T