Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.P48P

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.P48P
c.144T>C
Surrounding Variants
1 paper
NM_033337.3
p.E47D
c.141G>C
2 papers
NM_033337.3
p.E47D
c.141G>T
3 papers
NM_033337.3
p.E47A
c.140A>C
2 papers
NM_033337.3
p.E47K
c.139G>A
11 papers
NM_033337.3
p.A46V
c.137C>T
28 papers
NM_033337.3
p.A46T
c.136G>A
1 paper
NM_033337.3
p.Y52insFs
c.154_155dupTA
2 papers
NM_033337.3
p.Y52C
c.155A>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
1 paper
NM_033337.3
p.V44E
c.131T>A
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