Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.F92Y

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.F92Y
c.275T>A
Surrounding Variants
3 papers
NM_033337.3
p.F92F
c.276C>T
25 papers
NM_033337.3
p.A93T
c.277G>A
1 paper
NM_033337.3
p.A93S
c.277G>T
1 paper
NM_033337.3
p.L91P
c.272T>C
1 paper
NM_033337.3
p.S96T
c.286T>A
1 paper
NM_033337.3
p.S96A
c.286T>G
7 papers
NM_033337.3
p.F97del1
c.289_290delTTC
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.F97_C98delFs
c.290_293del4
6 papers
NM_033337.3
p.L87P
c.260T>C
1 paper
NM_033337.3
p.F97S
c.290T>C
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