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.E487K

c.1459G>A

Surrounding Variants

1 paper

NM_004341.5

p.L482L

c.1444C>T

1 paper

NM_004341.5

p.R496W

c.1486C>T

1 paper

NM_004341.5

p.G477A

c.1430G>C

1 paper

NM_004341.5

p.R500Q

c.1499G>A

1 paper

NM_004341.5

p.E507D

c.1521G>C

1 paper

NM_004341.5

p.E507D

c.1521G>T

1 paper

NM_004341.5

p.I509T

c.1526T>C

1 paper

NM_004341.5

p.E510delFs

c.1528delG

1 paper

NM_004341.5

p.R515*

c.1543C>T

1 paper

NM_004341.5

p.R521K

c.1562G>A

1 paper

NM_004341.5

p.V529M

c.1585G>A

1 paper

NM_004341.5

p.Q540_A541Splc

c.1620+1G>A