Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN1
Variant:p.S175delFs

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
3 papers
NM_012232.6
p.S175delFs
c.525delC
Surrounding Variants
1 paper
NM_012232.6
p.E176*
c.526G>T
5 papers
NM_012232.6
p.E176fs
c.526_527fs
1 paper
NM_012232.6
p.E176Q
c.526G>C
1 paper
NM_012232.6
p.E176fs
c.526_527fs
1 paper
NM_012232.6
p.K173_E174delFs
c.518_521del4
1 paper
NM_012232.6
p.K173fs
c.517_518fs
1 paper
NM_012232.6
p.E180E
c.540G>A
1 paper
NM_012232.6
p.S171*
c.512C>A
1 paper
NM_012232.6
p.S171A
c.511T>G
2 papers
NM_012232.6
p.E184*
c.550G>T
1 paper
NM_012232.6
p.E188*
c.562G>T
1 paper
NM_012232.6
p.R191W
c.571C>T
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."