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

1 paper

NM_000819.5

p.T333A

c.997A>G

Surrounding Variants

1 paper

NM_000819.5

p.E330delFs

c.989delT

1 paper

NM_000819.5

p.L329L

c.987A>G

1 paper

NM_000819.5

p.V327I

c.979G>A

1 paper

NM_000819.5

p.K342E

c.1024A>G

1 paper

NM_000819.5

p.D347H

c.1039G>C

1 paper

NM_000819.5

p.G319R

c.955G>C

1 paper

NM_000819.5

p.D347N

c.1039G>A

1 paper

NM_000819.5

p.G319R

c.955G>A

1 paper

NM_000819.5

p.K350R

c.1049A>G

1 paper

NM_000819.5

p.Q314R

c.941A>G

1 paper

NM_000819.5

p.T355del1

c.1063_1064delTGT

1 paper

NM_000819.5

p.L302F

c.904C>T