Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN1
Variant:p.R355_E357delFs

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.R355_E357delFs
c.1063_1069del7
Surrounding Variants
1 paper
NM_012232.6
p.G356fs
c.1066_1067fs
1 paper
NM_012232.6
p.E354_G364delFs
c.1061_1091del31
1 paper
NM_012232.6
p.D368N
c.1102G>A
1 paper
NM_012232.6
p.V318E
c.953T>A
1 paper
NM_012232.6
p.V318M
c.952G>A
3 papers
NM_012232.6
p.Y316delFs
c.947delT
1 paper
NM_012232.6
p.A309A
c.927G>C
4 papers
NM_012232.6
p.Y308C
c.923A>G
2 papers
NM_012232.6
p.T302M
c.905C>T
1 paper
NM_012232.6
p.S293S
c.879G>T
1 paper
NM_012232.6
p.R287G
c.859C>G
1 paper
NM_012232.6
p.E285K
c.853G>A
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