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.K65R

c.194A>G

Surrounding Variants

1 paper

NM_000819.5

p.K65K

c.195G>A

1 paper

NM_000819.5

p.V70A

c.209T>C

1 paper

NM_000819.5

p.V71A

c.212T>C

1 paper

NM_000819.5

p.A59V

c.176C>T

1 paper

NM_000819.5

p.A59G

c.176C>G

12 papers

NM_000819.5

p.A57V

c.170C>T

1 paper

NM_000819.5

p.A57P

c.169G>C

1 paper

NM_000819.5

p.P77P

c.231T>A

1 paper

NM_000819.5

p.I52M

c.156C>G

1 paper

NM_000819.5

p.A79P

c.235G>C

1 paper

NM_000819.5

p.S51insFs

c.151_152insC

1 paper

NM_000819.5

p.V83L

c.247G>C