Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.T63S

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
14 papers
NM_033337.3
p.T63S
c.187A>T
Surrounding Variants
9 papers
NM_033337.3
p.T63P
c.187A>C
1 paper
NM_033337.3
p.Y62*
c.186C>A
14 papers
NM_033337.3
p.T63S
c.188C>G
1 paper
NM_033337.3
p.Y62*
c.186C>G
1 paper
NM_033337.3
p.T63_F65delFs
c.187_194del8
2 papers
NM_033337.3
p.T63_T66del0
c.189_197del9
1 paper
NM_033337.3
p.T64insFs
c.191dupC
5 papers
NM_033337.3
p.T64P
c.190A>C
10 papers
NM_033337.3
p.T64S
c.190A>T
5 papers
NM_033337.3
p.S61R
c.183C>A
9 papers
NM_033337.3
p.T64S
c.191C>G
4 papers
NM_033337.3
p.S61R
c.183C>G
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