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.M1710I

c.5130G>T

Surrounding Variants

1 paper

NM_004341.5

p.M1710I

c.5130G>A

1 paper

NM_004341.5

p.M1710I

c.5130G>C

1 paper

NM_004341.5

p.H1690N

c.5068C>A

1 paper

NM_004341.5

p.P1743P

c.5229C>T

1 paper

NM_004341.5

p.E1755Q

c.5263G>C

1 paper

NM_004341.5

p.F1766_H1770delFs

c.5296_5308del13

1 paper

NM_004341.5

p.F1766fs

c.5296_5297fs

1 paper

NM_004341.5

p.W1771C

c.5313G>C

1 paper

NM_004341.5

p.R1784H

c.5351G>A

1 paper

NM_004341.5

p.R1789*

c.5365C>T

1 paper

NM_004341.5

p.R1789Q

c.5366G>A

1 paper

NM_004341.5

p.E1791*

c.5371G>T