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.H1590N

c.4768C>A

Surrounding Variants

1 paper

NM_004341.5

p.A1591A

c.4773A>G

1 paper

NM_004341.5

p.S1609_V1610insFs

c.4827_4828insT

1 paper

NM_004341.5

p.C1613S

c.4837T>A

1 paper

NM_004341.5

p.C1613S

c.4838G>C

1 paper

NM_004341.5

p.H1614N

c.4840C>A

1 paper

NM_004341.5

p.E1576*

c.4726G>T

1 paper

NM_004341.5

p.R1567Q

c.4700G>A

3 papers

NM_004341.5

p.T1562A

c.4684A>G

1 paper

NM_004341.5

p.A1532V

c.4595C>T

1 paper

NM_004341.5

p.G1526G

c.4578C>T

1 paper

NM_004341.5

p.E1524K

c.4570G>A

1 paper

NM_004341.5

p.E1637A

c.4910A>C