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

1–12 of 218 variants

12 papers

NM_000819.5

p.A57V

c.170C>T

9 papers

NM_000819.5

p.N290T

c.869A>C

7 papers

NM_000819.5

p.V421I

c.1261G>A

5 papers

NM_000819.5

p.G652A

c.1955G>C

4 papers

NM_000819.5

p.M577T

c.1730T>C

4 papers

NM_000819.5

p.K807delFs

c.2420delT

3 papers

NM_000819.5

p.E177D

c.531G>T

3 papers

NM_000819.5

p.E177D

c.531G>C

3 papers

NM_000819.5

p.E196K

c.586G>A

3 papers

NM_000819.5

p.Q216R

c.647A>G

3 papers

NM_000819.5

p.P268L

c.803C>T

3 papers

NM_000819.5

p.I272S

c.815T>G