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

2 papers

NM_004341.5

p.R122W

c.364C>T

Surrounding Variants

1 paper

NM_004341.5

p.T125S

c.373A>T

1 paper

NM_004341.5

p.T125S

c.374C>G

1 paper

NM_004341.5

p.E130K

c.388G>A

1 paper

NM_004341.5

p.Q140*

c.418C>T

1 paper

NM_004341.5

p.G142A

c.425G>C

1 paper

NM_004341.5

p.N154_R156delFs

c.460_467del8

1 paper

NM_004341.5

p.S163A

c.487T>G

1 paper

NM_004341.5

p.K165Q

c.493A>C

1 paper

NM_004341.5

p.K165_T166Splc

c.496-2A>G

1 paper

NM_004341.5

p.I178F

c.532A>T

1 paper

NM_004341.5

p.L179H

c.536T>A

2 papers

NM_004341.5

p.L181V

c.541T>G