Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.V145M

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
2 papers
NM_033337.3
p.V145M
c.433G>A
Surrounding Variants
1 paper
NM_033337.3
p.K144R
c.431A>G
2 papers
NM_033337.3
p.I143_K144delFs
c.427_431del5
1 paper
NM_033337.3
p.R148W
c.442C>T
22 papers
NM_033337.3
p.S141R
c.423C>A
22 papers
NM_033337.3
p.S141R
c.423C>G
3 papers
NM_033337.3
p.R148Q
c.443G>A
1 paper
NM_033337.3
p.R148R
c.444G>A
22 papers
NM_033337.3
p.S141R
c.421A>C
3 papers
NM_033337.3
p.S141G
c.421A>G
1 paper
NM_033337.3
p.C140S
c.419G>C
1 paper
NM_033337.3
p.C140S
c.418T>A
1 paper
NM_033337.3
p.E150V
c.449A>T
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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."