Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN1
Variant:p.P14T

CAVIN1

99 papers

RefSeq Summary

This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by p...

Pfam Domains

PTRF_SDPRaa 48–320UCSCPTRF/SDPR family

Gene Aliases

HGNC Name

caveolae associated protein 1

HGNC Previous Symbol

PTRF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012232.6
p.P14T
c.40C>A
Surrounding Variants
1 paper
NM_012232.6
p.G15A
c.44G>C
1 paper
NM_012232.6
p.G15E
c.44G>A
1 paper
NM_012232.6
p.G15G
c.45G>A
1 paper
NM_012232.6
p.E10K
c.28G>A
1 paper
NM_012232.6
p.I8V
c.22A>G
2 papers
NM_012232.6
p.Y7*
c.21T>G
2 papers
NM_012232.6
p.Y7*
c.21T>A
1 paper
NM_012232.6
p.P4delFs
c.11delG
1 paper
NM_012232.6
p.D3N
c.7G>A
1 paper
NM_012232.6
p.M1T
c.2T>C
1 paper
NM_012232.6
p.A27G
c.80C>G
1 paper
NM_012232.6
p.G28fs
c.82_83fs
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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."