Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN1
Variant:p.M274I

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.M274I
c.822G>A
Surrounding Variants
1 paper
NM_012232.6
p.M274I
c.822G>T
1 paper
NM_012232.6
p.M274I
c.822G>C
1 paper
NM_012232.6
p.K272R
c.815A>G
1 paper
NM_012232.6
p.R267W
c.799C>T
1 paper
NM_012232.6
p.P283S
c.847C>T
1 paper
NM_012232.6
p.E285K
c.853G>A
1 paper
NM_012232.6
p.R287G
c.859C>G
1 paper
NM_012232.6
p.K260E
c.778A>G
1 paper
NM_012232.6
p.S293S
c.879G>T
2 papers
NM_012232.6
p.T302M
c.905C>T
1 paper
NM_012232.6
p.K245E
c.733A>G
1 paper
NM_012232.6
p.M241delFs
c.721delT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."