Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.A134delFs

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.A134delFs
c.400delG
Surrounding Variants
1 paper
NM_033337.3
p.A134T
c.400G>A
1 paper
NM_033337.3
p.A134P
c.400G>C
1 paper
NM_033337.3
p.A134S
c.400G>T
1 paper
NM_033337.3
p.A134A
c.402G>A
1 paper
NM_033337.3
p.G137S
c.409G>A
2 papers
NM_033337.3
p.V139V
c.417C>T
1 paper
NM_033337.3
p.T127N
c.380C>A
1 paper
NM_033337.3
p.C140S
c.418T>A
1 paper
NM_033337.3
p.T127A
c.379A>G
1 paper
NM_033337.3
p.C140S
c.419G>C
22 papers
NM_033337.3
p.S141R
c.421A>C
3 papers
NM_033337.3
p.S141G
c.421A>G
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