Varaico: Literature-Extracted Genetic Variants

Gene:CTR9
Variant:p.V288I

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.V288I
c.862G>A
Surrounding Variants
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
3 papers
NM_014633.5
p.Q319_E320Splc
c.958-2A>G
1 paper
NM_014633.5
p.F335Fs
c.1003delinsGAFs
1 paper
NM_014633.5
p.S339_V341delFs
c.1017_1021del5
1 paper
NM_014633.5
p.G348G
c.1044A>G
1 paper
NM_014633.5
p.K366*
c.1096A>T
1 paper
NM_014633.5
p.L368fs
c.1102_1103fs
2 papers
NM_014633.5
p.E376K
c.1126G>A
1 paper
NM_014633.5
p.Y385C
c.1154A>G
1 paper
NM_014633.5
p.Q391E
c.1171C>G
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