Varaico: Literature-Extracted Genetic Variants

PFAS

102 papers

RefSeq Summary

Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de...

Pfam Domains

FGAR-AT_Naa 39–160UCSCFormylglycinamide ribonucleotide amidotransferase N-terminal

FGAR-AT_linkeraa 184–232UCSCFormylglycinamide ribonucleotide amidotransferase linker domain

AIRS_Caa 444–603UCSCAIR synthase related protein, C-terminal domain

FGAR-AT_PurM_N-likeaa 676–830UCSCFGAR-AT PurM_N-like domain

AIRS_Caa 847–991UCSCAIR synthase related protein, C-terminal domain

GATase_5aa 1062–1333UCSCCobB/CobQ-like glutamine amidotransferase domain

Gene Aliases

HGNC Name

phosphoribosylformylglycinamidine synthase

HGNC Alias Symbols

PURL; FGARAT; KIAA0361; GATD8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012393.3

p.L621R

c.1862T>G

Surrounding Variants

5 papers

NM_012393.3

p.L621P

c.1862T>C

1 paper

NM_012393.3

p.L621Fs

c.1862delinsGCFs

1 paper

NM_012393.3

p.T619A

c.1855A>G

1 paper

NM_012393.3

p.A616G

c.1847C>G

2 papers

NM_012393.3

p.D615G

c.1844A>G

1 paper

NM_012393.3

p.G614W

c.1840G>T

1 paper

NM_012393.3

p.R670K

c.2009G>A

1 paper

NM_012393.3

p.L671M

c.2011C>A

1 paper

NM_012393.3

p.A673V

c.2018C>T

1 paper

NM_012393.3

p.R678H

c.2033G>A

2 papers

NM_012393.3

p.P585R

c.1754C>G

1 paper

NM_012393.3

p.R572Q

c.1715G>A