Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN1
Variant:p.Q157fs

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.Q157fs
c.469_470fs
Surrounding Variants
2 papers
NM_012232.6
p.Q157H
c.471G>C
3 papers
NM_012232.6
p.Q157_D158Splc
c.471+1G>T
1 paper
NM_012232.6
p.M154I
c.462G>T
1 paper
NM_012232.6
p.M154I
c.462G>C
1 paper
NM_012232.6
p.M154I
c.462G>A
1 paper
NM_012232.6
p.N150D
c.448A>G
1 paper
NM_012232.6
p.L138L
c.412C>T
1 paper
NM_012232.6
p.K136M
c.407A>T
1 paper
NM_012232.6
p.I135M
c.405C>G
1 paper
NM_012232.6
p.Q134delFs
c.400delG
1 paper
NM_012232.6
p.K122fs
c.364_365fs
3 papers
NM_012232.6
p.V121insFs
c.362dupT
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