Varaico: Literature-Extracted Genetic Variants

Gene:CTR9
Variant:p.D411D

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.D411D
c.1233T>C
Surrounding Variants
1 paper
NM_014633.5
p.Q428_G429Splc
c.1285-42C>G
1 paper
NM_014633.5
p.T438P
c.1312A>C
1 paper
NM_014633.5
p.E443D
c.1329G>C
1 paper
NM_014633.5
p.E443D
c.1329G>T
2 papers
NM_014633.5
p.K398_G399Splc
c.1194+3A>C
3 papers
NM_014633.5
p.K398_G399Splc
c.1194+2T>C
2 papers
NM_014633.5
p.E469K
c.1405G>A
1 paper
NM_014633.5
p.D395V
c.1184A>T
1 paper
NM_014633.5
p.R394*
c.1180C>T
1 paper
NM_014633.5
p.Q391E
c.1171C>G
1 paper
NM_014633.5
p.Q391*
c.1171C>T
1 paper
NM_014633.5
p.Y385C
c.1154A>G
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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."