Varaico: Literature-Extracted Genetic Variants

Gene:RNGTT
Variant:p.E209A

RNGTT

73 papers

Pfam Domains

DSPcaa 47–178UCSCDual specificity phosphatase, catalytic domain
mRNA_cap_enzymeaa 233–462UCSCmRNA capping enzyme, catalytic domain
mRNA_cap_Caa 464–559UCSCmRNA capping enzyme, C-terminal domain

Gene Aliases

HGNC Name

RNA guanylyltransferase and 5'-phosphatase

HGNC Alias Symbols

HCE; HCE1; hCAP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003800.5
p.E209A
c.626A>C
Surrounding Variants
1 paper
NM_003800.5
p.K208K
c.624G>A
1 paper
NM_003800.5
p.F218L
c.652T>C
1 paper
NM_003800.5
p.F218L
c.654T>G
1 paper
NM_003800.5
p.F218L
c.654T>A
1 paper
NM_003800.5
p.E224A
c.671A>C
1 paper
NM_003800.5
p.P184P
c.552A>C
1 paper
NM_003800.5
p.E181D
c.543G>T
1 paper
NM_003800.5
p.E181D
c.543G>C
1 paper
NM_003800.5
p.E181A
c.542A>C
1 paper
NM_003800.5
p.E181Q
c.541G>C
1 paper
NM_003800.5
p.I180L
c.538A>T
1 paper
NM_003800.5
p.I180L
c.538A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."