Varaico: Literature-Extracted Genetic Variants

GART

298 papers

RefSeq Summary

The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activ...

Pfam Domains

GARS_Naa 3–104UCSCPhosphoribosylglycinamide synthetase, N domain

GARS_Aaa 105–298UCSCPhosphoribosylglycinamide synthetase, ATP-grasp (A) domain

GARS_Caa 334–424UCSCPhosphoribosylglycinamide synthetase, C domain

AIRSaa 479–593UCSCAIR synthase related protein, N-terminal domain

AIRS_Caa 606–777UCSCAIR synthase related protein, C-terminal domain

Formyl_trans_Naa 808–988UCSCFormyl transferase

Gene Aliases

HGNC Name

phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

HGNC Previous Symbols

PRGS; PGFT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_000819.5

p.M577T

c.1730T>C

Surrounding Variants

1 paper

NM_000819.5

p.P579P

c.1737C>T

2 papers

NM_000819.5

p.R595Q

c.1784G>A

1 paper

NM_000819.5

p.Q597*

c.1789C>T

1 paper

NM_000819.5

p.E603G

c.1808A>G

1 paper

NM_000819.5

p.V612I

c.1834G>A

1 paper

NM_000819.5

p.L619F

c.1855C>T

1 paper

NM_000819.5

p.H620Y

c.1858C>T

1 paper

NM_000819.5

p.N622S

c.1865A>G

1 paper

NM_000819.5

p.A632V

c.1895C>T

3 papers

NM_000819.5

p.S635F

c.1904C>T

1 paper

NM_000819.5

p.L636R

c.1907T>G

1 paper

NM_000819.5

p.P641A

c.1921C>G