Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.E34E

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.E34E
c.102G>A
Surrounding Variants
1 paper
NM_033337.3
p.E34V
c.101A>T
5 papers
NM_033337.3
p.E34K
c.100G>A
11 papers
NM_033337.3
p.N33K
c.99C>A
12 papers
NM_033337.3
p.N33K
c.99C>G
12 papers
NM_033337.3
p.N33N
c.99C>T
1 paper
NM_033337.3
p.V37I
c.109G>A
1 paper
NM_033337.3
p.V37L
c.109G>C
8 papers
NM_033337.3
p.N31I
c.92A>T
1 paper
NM_033337.3
p.K38R
c.113A>G
3 papers
NM_033337.3
p.K30R
c.89A>G
1 paper
NM_033337.3
p.K38_V39Splc
c.114+2T>A
8 papers
NM_033337.3
p.K38_V39Splc
c.114+2T>C
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