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.Q723H

c.2169G>T

Surrounding Variants

1 paper

NM_000170.3

p.Q723H

c.2169G>C

1 paper

NM_000170.3

p.Q723L

c.2168A>T

1 paper

NM_000170.3

p.Q723R

c.2168A>G

1 paper

NM_000170.3

p.Q723P

c.2168A>C

1 paper

NM_000170.3

p.Q723*

c.2167C>T

1 paper

NM_000170.3

p.Q723E

c.2167C>G

1 paper

NM_000170.3

p.Q723K

c.2167C>A

2 papers

NM_000170.3

p.G722R

c.2164G>C

2 papers

NM_000170.3

p.G722R

c.2164G>A

1 paper

NM_000170.3

p.Y725F

c.2174A>T

1 paper

NM_000170.3

p.Y725S

c.2174A>C

1 paper

NM_000170.3

p.Y725*

c.2175C>G