Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.T63_F65delFs

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.T63_F65delFs
c.187_194del8
Surrounding Variants
1 paper
NM_033337.3
p.Y62*
c.186C>A
1 paper
NM_033337.3
p.Y62*
c.186C>G
9 papers
NM_033337.3
p.T63P
c.187A>C
14 papers
NM_033337.3
p.T63S
c.187A>T
2 papers
NM_033337.3
p.T63_T66del0
c.189_197del9
14 papers
NM_033337.3
p.T63S
c.188C>G
5 papers
NM_033337.3
p.S61R
c.183C>A
4 papers
NM_033337.3
p.S61R
c.183C>G
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
1 paper
NM_033337.3
p.Y62_F65del4
c.184_194del12
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."