Varaico: Literature-Extracted Genetic Variants

Gene:CBARP
Variant:p.R79S

CBARP

73 papers

Pfam Domains

CBARPaa 34–483UCSCVoltage-dependent calcium channel beta subunit-associated regulator
CBARPaa 513–632UCSCVoltage-dependent calcium channel beta subunit-associated regulator

Gene Aliases

HGNC Name

CACN subunit beta associated regulatory protein

HGNC Previous Symbol

C19orf26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001393918.1
p.R79S
c.235C>A
Surrounding Variants
1 paper
NM_001393918.1
p.N81S
c.242A>G
1 paper
NM_001393918.1
p.R82Splc
c.245+5G>A
1 paper
NM_001393918.1
p.K71*
c.211A>T
1 paper
NM_001393918.1
p.S64C
c.191C>G
1 paper
NM_001393918.1
p.V49L
c.145G>T
1 paper
NM_001393918.1
p.V49L
c.145G>C
1 paper
NM_001393918.1
p.Y45F
c.134A>T
1 paper
NM_001393918.1
p.A19_T31del13
c.55_92del39
1 paper
NM_001393918.1
p.E86A
c.257A>C
1 paper
NM_001393918.1
p.T25M
c.74C>T
1 paper
NM_001393918.1
p.T24K
c.71C>A
2 papers
NM_001393918.1
p.T90T
c.270C>A
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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."