Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.T78M

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
80 papers
NM_033337.3
p.T78M
c.233C>T
Surrounding Variants
13 papers
NM_033337.3
p.T78K
c.233C>A
1 paper
NM_033337.3
p.T78A
c.232A>G
21 papers
NM_033337.3
p.L79R
c.236T>G
1 paper
NM_033337.3
p.L80L
c.240G>A
2 papers
NM_033337.3
p.G81R
c.241G>C
9 papers
NM_033337.3
p.V82I
c.244G>A
2 papers
NM_033337.3
p.V82F
c.244G>T
1 paper
NM_033337.3
p.R74S
c.220C>A
2 papers
NM_033337.3
p.R74C
c.220C>T
2 papers
NM_033337.3
p.Y73C
c.218A>G
1 paper
NM_033337.3
p.Y73F
c.218A>T
30 papers
NM_033337.3
p.C72W
c.216C>G
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