Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN1
Variant:p.K233N

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.K233N
c.699G>T
Surrounding Variants
5 papers
NM_012232.6
p.K233fs
c.697_698fs
1 paper
NM_012232.6
p.K233N
c.699G>C
1 paper
NM_012232.6
p.K233delFs
c.698delT
1 paper
NM_012232.6
p.K233fs
c.697_698fs
7 papers
NM_012232.6
p.F232_K233insFs
c.696_697insC
1 paper
NM_012232.6
p.R223_A235Fs
c.667_705delinsCTGCGFs
1 paper
NM_012232.6
p.V229L
c.685G>T
1 paper
NM_012232.6
p.M241delFs
c.721delT
1 paper
NM_012232.6
p.K222_R223del2
c.664_668del6
1 paper
NM_012232.6
p.K245E
c.733A>G
1 paper
NM_012232.6
p.S216delFs
c.648delG
1 paper
NM_012232.6
p.R217fs
c.649_650fs
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."