Varaico: Literature-Extracted Genetic Variants

CAD

279 papers

RefSeq Summary

The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first...

Pfam Domains

CPSase_sm_chainaa 4–138UCSCCarbamoyl-phosphate synthase small chain, CPSase domain

GATaseaa 179–356UCSCGlutamine amidotransferase class-I

CPSase_L_D1aa 392–511UCSCCarbamoyl phosphate synthase preATP-grasp domain

CPSase_L_D2aa 514–718UCSCCarbamoyl-phosphate synthase L chain, ATP binding domain

CPSase_L_D2aa 614–655UCSCCarbamoyl-phosphate synthase L chain, ATP binding domain

CPSase_L_D3aa 800–881UCSCCarbamoyl-phosphate synthetase large chain, oligomerisation domain

Gene Aliases

HGNC Name

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

HGNC Alias Symbol

GATD4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004341.5

p.R238C

c.712C>T

Surrounding Variants

1 paper

NM_004341.5

p.R238H

c.713G>A

1 paper

NM_004341.5

p.V239A

c.716T>C

1 paper

NM_004341.5

p.P245L

c.734C>T

1 paper

NM_004341.5

p.P245P

c.735C>T

1 paper

NM_004341.5

p.R246*

c.736C>T

1 paper

NM_004341.5

p.Y229C

c.686A>G

1 paper

NM_004341.5

p.P247T

c.739C>A

1 paper

NM_004341.5

p.P247P

c.741T>C

2 papers

NM_004341.5

p.P226L

c.677C>T

1 paper

NM_004341.5

p.D225A

c.674A>C

1 paper

NM_004341.5

p.S220R

c.660T>A

1 paper

NM_004341.5

p.S220R

c.660T>G