Varaico: Literature-Extracted Genetic Variants

Gene:CAV3

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
1–12 of 204 variants
80 papers
NM_033337.3
p.T78M
c.233C>T
31 papers
NM_033337.3
p.F97C
c.290T>G
30 papers
NM_033337.3
p.C72W
c.216C>G
29 papers
NM_033337.3
p.R27Q
c.80G>A
28 papers
NM_033337.3
p.A46T
c.136G>A
25 papers
NM_033337.3
p.A93T
c.277G>A
24 papers
NM_033337.3
p.V14L
c.40G>C
22 papers
NM_033337.3
p.S141R
c.421A>C
22 papers
NM_033337.3
p.S141R
c.423C>A
22 papers
NM_033337.3
p.S141R
c.423C>G
21 papers
NM_033337.3
p.L79R
c.236T>G
17 papers
NM_033337.3
p.G56S
c.166G>A
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