Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.K30R

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
3 papers
NM_033337.3
p.K30R
c.89A>G
Surrounding Variants
1 paper
NM_033337.3
p.P29P
c.87C>A
8 papers
NM_033337.3
p.N31I
c.92A>T
3 papers
NM_033337.3
p.P29L
c.86C>T
2 papers
NM_033337.3
p.P29T
c.85C>A
9 papers
NM_033337.3
p.D28E
c.84C>A
9 papers
NM_033337.3
p.D28E
c.84C>G
29 papers
NM_033337.3
p.R27Q
c.80G>A
3 papers
NM_033337.3
p.R27P
c.80G>C
11 papers
NM_033337.3
p.N33K
c.99C>A
12 papers
NM_033337.3
p.N33K
c.99C>G
5 papers
NM_033337.3
p.R27G
c.79C>G
12 papers
NM_033337.3
p.N33N
c.99C>T
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