Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.E10K

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
1 paper
NM_033337.3
p.E10K
c.28G>A
Surrounding Variants
4 papers
NM_033337.3
p.L9L
c.27C>T
1 paper
NM_033337.3
p.E10_I17del8
c.28_50del24
1 paper
NM_033337.3
p.A11T
c.31G>A
1 paper
NM_033337.3
p.A11D
c.32C>A
1 paper
NM_033337.3
p.Q12*
c.34C>T
1 paper
NM_033337.3
p.Q12H
c.36G>C
1 paper
NM_033337.3
p.I13V
c.37A>G
2 papers
NM_033337.3
p.I13F
c.37A>T
1 paper
NM_033337.3
p.T7_V14del8
c.19_41del24
1 paper
NM_033337.3
p.I13I
c.39C>T
6 papers
NM_033337.3
p.V14I
c.40G>A
24 papers
NM_033337.3
p.V14L
c.40G>C
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