Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN1
Variant:p.K45delFs

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.K45delFs
c.135delC
Surrounding Variants
1 paper
NM_012232.6
p.S46*
c.137C>A
1 paper
NM_012232.6
p.K45fs
c.133_134fs
1 paper
NM_012232.6
p.A38S
c.112G>T
2 papers
NM_012232.6
p.V54fs
c.160_161fs
2 papers
NM_012232.6
p.V54delFs
c.160delC
1 paper
NM_012232.6
p.E33K
c.97G>A
1 paper
NM_012232.6
p.D59V
c.176A>T
1 paper
NM_012232.6
p.A31A
c.93A>T
4 papers
NM_012232.6
p.Q30delFs
c.88delG
1 paper
NM_012232.6
p.Q30*
c.88C>T
1 paper
NM_012232.6
p.G63R
c.187G>C
1 paper
NM_012232.6
p.G63R
c.187G>A
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