Varaico: Literature-Extracted Genetic Variants

Gene:RNGTT

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
1–12 of 83 variants
2 papers
NM_003800.5
p.F24Y
c.71T>A
2 papers
NM_003800.5
p.F45I
c.133T>A
2 papers
NM_003800.5
p.R108C
c.322C>T
2 papers
NM_003800.5
p.T133A
c.397A>G
2 papers
NM_003800.5
p.D363A
c.1088A>C
1 paper
NM_003800.5
p.Y35F
c.104A>T
1 paper
NM_003800.5
p.Y35S
c.104A>C
1 paper
NM_003800.5
p.D36N
c.106G>A
1 paper
NM_003800.5
p.D36A
c.107A>C
1 paper
NM_003800.5
p.D36E
c.108T>G
1 paper
NM_003800.5
p.D36E
c.108T>A
1 paper
NM_003800.5
p.V39V
c.117T>A
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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."