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.P228L

c.683C>T

Surrounding Variants

1 paper

NM_000819.5

p.H218R

c.653A>G

3 papers

NM_000819.5

p.Q216R

c.647A>G

1 paper

NM_000819.5

p.Q241R

c.722A>G

1 paper

NM_000819.5

p.P214A

c.640C>G

1 paper

NM_000819.5

p.G206C

c.616G>T

1 paper

NM_000819.5

p.D205H

c.613G>C

1 paper

NM_000819.5

p.V198A

c.593T>C

1 paper

NM_000819.5

p.V198L

c.592G>T

1 paper

NM_000819.5

p.V198L

c.592G>C

1 paper

NM_000819.5

p.E196Q

c.586G>C

3 papers

NM_000819.5

p.E196K

c.586G>A

3 papers

NM_000819.5

p.E177D

c.531G>T