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.H1642N

c.4924C>A

Surrounding Variants

2 papers

NM_004341.5

p.F1644L

c.4930T>C

1 paper

NM_004341.5

p.F1644L

c.4932C>A

1 paper

NM_004341.5

p.F1644L

c.4932C>G

1 paper

NM_004341.5

p.E1637A

c.4910A>C

1 paper

NM_004341.5

p.R1652C

c.4954C>T

1 paper

NM_004341.5

p.R1667H

c.5000G>A

2 papers

NM_004341.5

p.I1680I

c.5040C>T

1 paper

NM_004341.5

p.D1686N

c.5056G>A

1 paper

NM_004341.5

p.H1614N

c.4840C>A

1 paper

NM_004341.5

p.C1613S

c.4838G>C

1 paper

NM_004341.5

p.C1613S

c.4837T>A

1 paper

NM_004341.5

p.S1609_V1610insFs

c.4827_4828insT