Varaico: Literature-Extracted Genetic Variants

Gene:RNGTT
Variant:p.N117S

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.N117S
c.350A>G
Surrounding Variants
2 papers
NM_003800.5
p.R108C
c.322C>T
1 paper
NM_003800.5
p.E96A
c.287A>C
1 paper
NM_003800.5
p.L89L
c.267T>C
1 paper
NM_003800.5
p.R76*
c.226C>T
1 paper
NM_003800.5
p.D66A
c.197A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."