Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.F41F

CAV3

380 papers

RefSeq Summary

This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for orga...

Pfam Domains

Caveolinaa 15–148UCSCCaveolin

Gene Aliases

HGNC Name

caveolin 3

HGNC Alias Symbols

VIP-21; LGMD1C; VIP21; LQT9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_033337.3
p.F41F
c.123T>C
Surrounding Variants
2 papers
NM_033337.3
p.F41S
c.122T>C
1 paper
NM_033337.3
p.D43G
c.128A>G
1 paper
NM_033337.3
p.D40fs
c.118_119fs
6 papers
NM_033337.3
p.V44M
c.130G>A
1 paper
NM_033337.3
p.V39M
c.115G>A
1 paper
NM_033337.3
p.V39L
c.115G>C
1 paper
NM_033337.3
p.V39L
c.115G>T
1 paper
NM_033337.3
p.V39fs
c.115_116fs
1 paper
NM_033337.3
p.V44E
c.131T>A
28 papers
NM_033337.3
p.A46T
c.136G>A
11 papers
NM_033337.3
p.A46V
c.137C>T
1 paper
NM_033337.3
p.K38_V39Splc
c.115-6C>T
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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."