Varaico: Literature-Extracted Genetic Variants

Gene:CTR9
Variant:p.R218P

CTR9

100 papers

RefSeq Summary

The protein encoded by this gene is a component of the PAF1 complex, which associates with RNA polymerase II and functions in transcriptional regulation and elongation. This complex also plays a role ...

Pfam Domains

TPR_10aa 452–490UCSCTetratricopeptide repeat
TPR_8aa 681–709UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

CTR9 component of Paf1/RNA polymerase II complex

HGNC Previous Symbol

SH2BP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014633.5
p.R218P
c.653G>C
Surrounding Variants
2 papers
NM_014633.5
p.A220T
c.658G>A
1 paper
NM_014633.5
p.L227insFs
c.679_680insAG
1 paper
NM_014633.5
p.S229C
c.686C>G
3 papers
NM_014633.5
p.R201C
c.601C>T
1 paper
NM_014633.5
p.V200G
c.599T>G
1 paper
NM_014633.5
p.G254G
c.762T>C
1 paper
NM_014633.5
p.V288I
c.862G>A
1 paper
NM_014633.5
p.V301A
c.902T>C
1 paper
NM_014633.5
p.E307E
c.921G>A
1 paper
NM_014633.5
p.S308N
c.923G>A
1 paper
NM_014633.5
p.A198Splc
c.592+2T>C
3 papers
NM_014633.5
p.Q319_E320Splc
c.958-2A>G
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."