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

1–12 of 252 variants

4 papers

NM_004341.5

p.V2115L

c.6343G>C

3 papers

NM_004341.5

p.M33R

c.98T>G

3 papers

NM_004341.5

p.T614_V615Splc

c.1843-1G>A

3 papers

NM_004341.5

p.T1562A

c.4684A>G

3 papers

NM_004341.5

p.R2024Q

c.6071G>A

3 papers

NM_004341.5

p.V2115L

c.6343G>T

2 papers

NM_004341.5

p.E38K

c.112G>A

2 papers

NM_004341.5

p.H105R

c.314A>G

2 papers

NM_004341.5

p.R122W

c.364C>T

2 papers

NM_004341.5

p.L181V

c.541T>G

2 papers

NM_004341.5

p.G184D

c.551G>A

2 papers

NM_004341.5

p.P226L

c.677C>T