Varaico: Literature-Extracted Genetic Variants

Gene:CTR9
Variant:p.H153R

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.H153R
c.458A>G
Surrounding Variants
1 paper
NM_014633.5
p.N157S
c.470A>G
1 paper
NM_014633.5
p.D143insFs
c.429dupC
1 paper
NM_014633.5
p.I163M
c.489T>G
1 paper
NM_014633.5
p.P164S
c.490C>T
1 paper
NM_014633.5
p.G142D
c.425G>A
1 paper
NM_014633.5
p.A165A
c.495C>A
1 paper
NM_014633.5
p.D108V
c.323A>T
1 paper
NM_014633.5
p.K107fs
c.319_320fs
1 paper
NM_014633.5
p.K107*
c.319A>T
1 paper
NM_014633.5
p.N102K
c.306T>A
1 paper
NM_014633.5
p.N102K
c.306T>G
1 paper
NM_014633.5
p.N102D
c.304A>G
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