Varaico: Literature-Extracted Genetic Variants

CPS1

462 papers

RefSeq Summary

The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important i...

Pfam Domains

CPSase_sm_chainaa 48–183UCSCCarbamoyl-phosphate synthase small chain, CPSase domain

GATaseaa 221–397UCSCGlutamine amidotransferase class-I

CPSase_L_D1aa 421–543UCSCCarbamoyl phosphate synthase preATP-grasp domain

CPSase_L_D2aa 546–750UCSCCarbamoyl-phosphate synthase L chain, ATP binding domain

CPSase_L_D3aa 841–921UCSCCarbamoyl-phosphate synthetase large chain, oligomerisation domain

CPSase_L_D1aa 972–1085UCSCCarbamoyl phosphate synthase preATP-grasp domain

Gene Aliases

HGNC Name

carbamoyl-phosphate synthase 1

HGNC Alias Symbol

GATD6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001875.5

p.R775H

c.2324G>A

Surrounding Variants

1 paper

NM_001875.5

p.R775L

c.2324G>T

1 paper

NM_001875.5

p.R775G

c.2323C>G

1 paper

NM_001875.5

p.R775C

c.2323C>T

6 papers

NM_001875.5

p.P774L

c.2321C>T

1 paper

NM_001875.5

p.P774T

c.2320C>A

1 paper

NM_001875.5

p.W776C

c.2328G>C

1 paper

NM_001875.5

p.W776C

c.2328G>T

1 paper

NM_001875.5

p.K772N

c.2316G>T

1 paper

NM_001875.5

p.K772R

c.2315A>G

1 paper

NM_001875.5

p.K772Q

c.2314A>C

1 paper

NM_001875.5

p.D779G

c.2336A>G

2 papers

NM_001875.5

p.R780delFs

c.2338delC