Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.F54V

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.F54V
c.160T>G
Surrounding Variants
1 paper
NM_033337.3
p.F54C
c.161T>G
1 paper
NM_033337.3
p.S53G
c.157A>G
1 paper
NM_033337.3
p.S53C
c.157A>T
1 paper
NM_033337.3
p.S53fs
c.157_158fs
2 papers
NM_033337.3
p.D55N
c.163G>A
1 paper
NM_033337.3
p.D55_T63delFs
c.165_187del23
2 papers
NM_033337.3
p.Y52C
c.155A>G
17 papers
NM_033337.3
p.G56S
c.166G>A
1 paper
NM_033337.3
p.G56R
c.166G>C
1 paper
NM_033337.3
p.Y52insFs
c.154_155dupTA
1 paper
NM_033337.3
p.G56G
c.168C>A
12 papers
NM_033337.3
p.V57M
c.169G>A
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