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.K807delFs

c.2420delT

Surrounding Variants

3 papers

NM_000819.5

p.K807fs

c.2419_2420fs

1 paper

NM_000819.5

p.K807insFs

c.2420dupA

1 paper

NM_000819.5

p.K807fs

c.2419_2420fs

1 paper

NM_000819.5

p.E804A

c.2411A>C

1 paper

NM_000819.5

p.V812V

c.2436C>T

1 paper

NM_000819.5

p.P774S

c.2320C>T

1 paper

NM_000819.5

p.G764C

c.2290G>T

3 papers

NM_000819.5

p.D752G

c.2255A>G

1 paper

NM_000819.5

p.R751G

c.2251A>G

1 paper

NM_000819.5

p.I749T

c.2246T>C

1 paper

NM_000819.5

p.T746P

c.2236A>C

1 paper

NM_000819.5

p.V738I

c.2212G>A