Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN1
Variant:p.G28fs

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.G28fs
c.82_83fs
Surrounding Variants
1 paper
NM_012232.6
p.A27G
c.80C>G
1 paper
NM_012232.6
p.Q30*
c.88C>T
4 papers
NM_012232.6
p.Q30delFs
c.88delG
1 paper
NM_012232.6
p.A31A
c.93A>T
1 paper
NM_012232.6
p.E33K
c.97G>A
1 paper
NM_012232.6
p.A38S
c.112G>T
1 paper
NM_012232.6
p.G15G
c.45G>A
1 paper
NM_012232.6
p.G15A
c.44G>C
1 paper
NM_012232.6
p.G15E
c.44G>A
1 paper
NM_012232.6
p.P14T
c.40C>A
1 paper
NM_012232.6
p.K45fs
c.133_134fs
3 papers
NM_012232.6
p.K45delFs
c.135delC
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