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.T253A

c.757A>G

Surrounding Variants

1 paper

NM_000819.5

p.D252N

c.754G>A

2 papers

NM_000819.5

p.L246_K249del4

c.736_746del12

1 paper

NM_000819.5

p.D260G

c.779A>G

1 paper

NM_000819.5

p.N244D

c.730A>G

3 papers

NM_000819.5

p.P268L

c.803C>T

3 papers

NM_000819.5

p.I272S

c.815T>G

1 paper

NM_000819.5

p.I272N

c.815T>A

9 papers

NM_000819.5

p.N290T

c.869A>C

1 paper

NM_000819.5

p.G294R

c.880G>C

1 paper

NM_000819.5

p.E297A

c.890A>C

1 paper

NM_000819.5

p.L302F

c.904C>T

1 paper

NM_000819.5

p.Q314R

c.941A>G