Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.L86P

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
11 papers
NM_033337.3
p.L86P
c.257T>C
Surrounding Variants
1 paper
NM_033337.3
p.L87F
c.259C>T
6 papers
NM_033337.3
p.L87P
c.260T>C
16 papers
NM_033337.3
p.A85T
c.253G>A
1 paper
NM_033337.3
p.W88R
c.262T>A
1 paper
NM_033337.3
p.W88G
c.262T>G
1 paper
NM_033337.3
p.L84P
c.251T>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.L91P
c.272T>C
2 papers
NM_033337.3
p.G81R
c.241G>C
1 paper
NM_033337.3
p.L80L
c.240G>A
1 paper
NM_033337.3
p.F92Y
c.275T>A
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