Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN1
Variant:p.V119D

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.V119D
c.356T>A
Surrounding Variants
3 papers
NM_012232.6
p.V121insFs
c.362dupT
1 paper
NM_012232.6
p.K122fs
c.364_365fs
1 paper
NM_012232.6
p.K109insFs
c.325dupA
1 paper
NM_012232.6
p.S104N
c.311G>A
1 paper
NM_012232.6
p.Q134delFs
c.400delG
1 paper
NM_012232.6
p.I135M
c.405C>G
1 paper
NM_012232.6
p.K136M
c.407A>T
1 paper
NM_012232.6
p.L138L
c.412C>T
1 paper
NM_012232.6
p.E92fs
c.274_275fs
1 paper
NM_012232.6
p.Q90P
c.269A>C
1 paper
NM_012232.6
p.Q90delFs
c.268delG
1 paper
NM_012232.6
p.N150D
c.448A>G
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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."