Varaico: Literature-Extracted Genetic Variants

Gene:GDPGP1
Variant:p.R293Q

GDPGP1

21 papers

Pfam Domains

GDPGP1_Naa 58–222UCSCGDPGP1-like, N-terminal domain
GDPGP1_Caa 227–383UCSCGDPGP1-like, C-terminal domain

Gene Aliases

HGNC Name

GDP-D-glucose phosphorylase 1

HGNC Previous Symbol

C15orf58

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001013657.3
p.R293Q
c.878G>A
Surrounding Variants
1 paper
NM_001013657.3
p.S235C
c.703A>T
1 paper
NM_001013657.3
p.G221D
c.662G>A
1 paper
NM_001013657.3
p.H220R
c.659A>G
1 paper
NM_001013657.3
p.Q382*
c.1144C>T
1 paper
NM_001013657.3
p.E383E
c.1149A>G
1 paper
NM_001013657.3
p.P199L
c.596C>T
1 paper
NM_001013657.3
p.L182L
c.544C>T
1 paper
NM_001013657.3
p.V170E
c.509T>A
1 paper
NM_001013657.3
p.H166H
c.498C>T
1 paper
NM_001013657.3
p.S160_P161insFs
c.480_481insC
1 paper
NM_001013657.3
p.S160fs
c.478_479fs
1 paper
NM_001013657.3
p.E141D
c.423G>C
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