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.M2144I

c.6432G>A

Surrounding Variants

1 paper

NM_004341.5

p.M2144I

c.6432G>C

1 paper

NM_004341.5

p.M2144I

c.6432G>T

1 paper

NM_004341.5

p.R2151*

c.6451C>T

1 paper

NM_004341.5

p.A2135S

c.6403G>T

1 paper

NM_004341.5

p.Q2156*

c.6466C>T

1 paper

NM_004341.5

p.F2129L

c.6387C>A

4 papers

NM_004341.5

p.V2115L

c.6343G>C

3 papers

NM_004341.5

p.V2115L

c.6343G>T

1 paper

NM_004341.5

p.R2098H

c.6293G>A

1 paper

NM_004341.5

p.R2174W

c.6520C>T

1 paper

NM_004341.5

p.R2174L

c.6521G>T

1 paper

NM_004341.5

p.M2185_P2186del2

c.6553_6557del6