Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.K69R

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.K69R
c.206A>G
Surrounding Variants
1 paper
NM_033337.3
p.K69Fs
c.205_206delinsAACTFs
1 paper
NM_033337.3
p.K69N
c.207G>C
1 paper
NM_033337.3
p.K69N
c.207G>T
1 paper
NM_033337.3
p.S68S
c.204C>A
2 papers
NM_033337.3
p.V67D
c.200T>A
1 paper
NM_033337.3
p.T66P
c.196A>C
30 papers
NM_033337.3
p.C72W
c.216C>G
2 papers
NM_033337.3
p.Y73C
c.218A>G
1 paper
NM_033337.3
p.Y73F
c.218A>T
3 papers
NM_033337.3
p.F65S
c.194T>C
1 paper
NM_033337.3
p.R74S
c.220C>A
2 papers
NM_033337.3
p.R74C
c.220C>T
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