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

7 papers

NM_000819.5

p.V421I

c.1261G>A

Surrounding Variants

1 paper

NM_000819.5

p.E413K

c.1237G>A

1 paper

NM_000819.5

p.K405T

c.1214A>C

1 paper

NM_000819.5

p.K404N

c.1212G>T

1 paper

NM_000819.5

p.K404N

c.1212G>C

1 paper

NM_000819.5

p.K404R

c.1211A>G

1 paper

NM_000819.5

p.L400R

c.1199T>G

1 paper

NM_000819.5

p.I397V

c.1189A>G

1 paper

NM_000819.5

p.R393Q

c.1178G>A

1 paper

NM_000819.5

p.L387F

c.1159C>T

1 paper

NM_000819.5

p.R385K

c.1154G>A

1 paper

NM_000819.5

p.G383V

c.1148G>T

1 paper

NM_000819.5

p.V367_F368insA

c.1099_1103ins3