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

3 papers

NM_000819.5

p.G652R

c.1954G>C

Surrounding Variants

3 papers

NM_000819.5

p.G652R

c.1954G>A

5 papers

NM_000819.5

p.G652A

c.1955G>C

1 paper

NM_000819.5

p.T657M

c.1970C>T

1 paper

NM_000819.5

p.I681M

c.2043T>G

2 papers

NM_000819.5

p.E688G

c.2063A>G

3 papers

NM_000819.5

p.G652R

c.1954G>C

1 paper

NM_000819.5

p.P641A

c.1921C>G

1 paper

NM_000819.5

p.L636R

c.1907T>G

3 papers

NM_000819.5

p.S635F

c.1904C>T

1 paper

NM_000819.5

p.A632V

c.1895C>T

1 paper

NM_000819.5

p.N622S

c.1865A>G

1 paper

NM_000819.5

p.H620Y

c.1858C>T