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

1 paper

NM_000170.3

p.E504D

c.1512G>C

Surrounding Variants

1 paper

NM_000170.3

p.E504D

c.1512G>T

5 papers

NM_000170.3

p.E503A

c.1508A>C

2 papers

NM_000170.3

p.R506T

c.1517G>C

1 paper

NM_000170.3

p.G507R

c.1519G>C

1 paper

NM_000170.3

p.G502*

c.1504G>T

4 papers

NM_000170.3

p.P509A

c.1525C>G

1 paper

NM_000170.3

p.E495_V497del0

c.1484_1489del6

1 paper

NM_000170.3

p.V512L

c.1534G>T

1 paper

NM_000170.3

p.V512L

c.1534G>C

2 papers

NM_000170.3

p.V512G

c.1535T>G

1 paper

NM_000170.3

p.K514Q

c.1540A>C

2 papers

NM_000170.3

p.E495Q

c.1483G>C