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.A100V

c.299C>T

Surrounding Variants

1 paper

NM_000819.5

p.L103F

c.309A>T

1 paper

NM_000819.5

p.L103F

c.309A>C

2 papers

NM_000819.5

p.C93F

c.278G>T

2 papers

NM_000819.5

p.C93S

c.278G>C

2 papers

NM_000819.5

p.C93S

c.277T>A

1 paper

NM_000819.5

p.R108W

c.322A>T

1 paper

NM_000819.5

p.F109L

c.325T>C

1 paper

NM_000819.5

p.A89V

c.266C>T

1 paper

NM_000819.5

p.E112A

c.335A>C

1 paper

NM_000819.5

p.R87S

c.261G>C

1 paper

NM_000819.5

p.M114I

c.342G>T

1 paper

NM_000819.5

p.M114I

c.342G>C