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.A583P

c.1747G>C

Surrounding Variants

1 paper

NM_004341.5

p.A583D

c.1748C>A

1 paper

NM_004341.5

p.A581G

c.1742C>G

1 paper

NM_004341.5

p.R571G

c.1711A>G

1 paper

NM_004341.5

p.G596R

c.1786G>A

1 paper

NM_004341.5

p.G596R

c.1786G>C

2 papers

NM_004341.5

p.G564D

c.1691G>A

1 paper

NM_004341.5

p.Y550D

c.1648T>G

1 paper

NM_004341.5

p.T614_V615Splc

c.1843-3C>T

3 papers

NM_004341.5

p.T614_V615Splc

c.1843-1G>A

1 paper

NM_004341.5

p.P636S

c.1906C>T

1 paper

NM_004341.5

p.C665G

c.1993T>G

1 paper

NM_004341.5

p.E674V

c.2021A>T