Varaico: Literature-Extracted Genetic Variants

Gene:RNGTT
Variant:p.C126S

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.C126S
c.376T>A
Surrounding Variants
1 paper
NM_003800.5
p.C126S
c.377G>C
1 paper
NM_003800.5
p.R132H
c.395G>A
2 papers
NM_003800.5
p.T133A
c.397A>G
1 paper
NM_003800.5
p.M145I
c.435G>T
1 paper
NM_003800.5
p.G167A
c.500G>C
1 paper
NM_003800.5
p.I180L
c.538A>T
1 paper
NM_003800.5
p.I180L
c.538A>C
1 paper
NM_003800.5
p.E181Q
c.541G>C
1 paper
NM_003800.5
p.E181A
c.542A>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.P184P
c.552A>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."