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.V34L

c.100G>C

Surrounding Variants

3 papers

NM_004341.5

p.M33R

c.98T>G

1 paper

NM_004341.5

p.G35R

c.103G>C

1 paper

NM_004341.5

p.G32G

c.96C>A

1 paper

NM_004341.5

p.Y36*

c.108C>A

1 paper

NM_004341.5

p.T31S

c.92C>G

1 paper

NM_004341.5

p.Q30H

c.90A>T

1 paper

NM_004341.5

p.P37H

c.110C>A

2 papers

NM_004341.5

p.E38K

c.112G>A

1 paper

NM_004341.5

p.T41A

c.121A>G

1 paper

NM_004341.5

p.T41I

c.122C>T

1 paper

NM_004341.5

p.V51V

c.153G>A

1 paper

NM_004341.5

p.L52I

c.154C>A