Varaico: Literature-Extracted Genetic Variants

Gene:CTR9
Variant:p.P25A

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.P25A
c.73C>G
Surrounding Variants
1 paper
NM_014633.5
p.P25R
c.74C>G
1 paper
NM_014633.5
p.P25L
c.74C>T
1 paper
NM_014633.5
p.P25P
c.75G>A
1 paper
NM_014633.5
p.L24fs
c.70_71fs
1 paper
NM_014633.5
p.G27*
c.79G>T
1 paper
NM_014633.5
p.E29K
c.85G>A
1 paper
NM_014633.5
p.E29delins
c.86delinsTCAT
1 paper
NM_014633.5
p.L19I
c.55C>A
1 paper
NM_014633.5
p.I17F
c.49A>T
1 paper
NM_014633.5
p.L34Q
c.101T>A
2 papers
NM_014633.5
p.Q36*
c.106C>T
1 paper
NM_014633.5
p.Q36R
c.107A>G
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