Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.F97C

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
31 papers
NM_033337.3
p.F97C
c.290T>G
Surrounding Variants
1 paper
NM_033337.3
p.F97S
c.290T>C
1 paper
NM_033337.3
p.F97_C98delFs
c.290_293del4
7 papers
NM_033337.3
p.F97del1
c.289_290delTTC
1 paper
NM_033337.3
p.C98*
c.294C>A
1 paper
NM_033337.3
p.S96T
c.286T>A
1 paper
NM_033337.3
p.S96A
c.286T>G
1 paper
NM_033337.3
p.I100F
c.298A>T
2 papers
NM_033337.3
p.I100N
c.299T>A
4 papers
NM_033337.3
p.W101R
c.301T>A
5 papers
NM_033337.3
p.W101R
c.301T>C
25 papers
NM_033337.3
p.A93T
c.277G>A
2 papers
NM_033337.3
p.W101C
c.303G>C
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