Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.D16A

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.D16A
c.47A>C
Surrounding Variants
3 papers
NM_033337.3
p.K15N
c.45G>C
3 papers
NM_033337.3
p.K15N
c.45G>T
6 papers
NM_033337.3
p.V14I
c.40G>A
24 papers
NM_033337.3
p.V14L
c.40G>C
1 paper
NM_033337.3
p.I13I
c.39C>T
3 papers
NM_033337.3
p.C19S
c.55T>A
1 paper
NM_033337.3
p.C19R
c.55T>C
3 papers
NM_033337.3
p.C19S
c.56G>C
1 paper
NM_033337.3
p.I13V
c.37A>G
2 papers
NM_033337.3
p.I13F
c.37A>T
1 paper
NM_033337.3
p.Q12H
c.36G>C
1 paper
NM_033337.3
p.K20R
c.59A>G
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