Varaico: Literature-Extracted Genetic Variants

GMPS

133 papers

RefSeq Summary

In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleot...

Pfam Domains

GATaseaa 29–210UCSCGlutamine amidotransferase class-I

NAD_synthaseaa 219–339UCSCNAD synthase

GMP_synt_Caa 597–692UCSCGMP synthase C terminal domain

Gene Aliases

HGNC Name

guanine monophosphate synthase

HGNC Alias Symbol

GATD7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003875.3

p.T331T

c.993A>G

Surrounding Variants

1 paper

NM_003875.3

p.M329K

c.986T>A

1 paper

NM_003875.3

p.E335Fs

c.1003delinsGAFs

1 paper

NM_003875.3

p.T326M

c.977C>T

1 paper

NM_003875.3

p.T343N

c.1028C>A

1 paper

NM_003875.3

p.S313L

c.938C>T

1 paper

NM_003875.3

p.S302A

c.904T>G

1 paper

NM_003875.3

p.S302insFs

c.904dupT

1 paper

NM_003875.3

p.K346_I347Splc

c.1039-1G>A

1 paper

NM_003875.3

p.E350K

c.1048G>A

1 paper

NM_003875.3

p.L357_K358insA

c.1069_1073ins3

1 paper

NM_003875.3

p.Q366R

c.1097A>G

1 paper

NM_003875.3

p.L397F

c.1189C>T