Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.M1insFs

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.M1insFs
c.2_3insT
Surrounding Variants
1 paper
NM_033337.3
p.M1insFs
c.1dupA
1 paper
NM_033337.3
p.M1T
c.2T>C
1 paper
NM_033337.3
p.M1_M2del1
c.3_5delGAT
5 papers
NM_033337.3
p.M1I
c.3G>A
1 paper
NM_033337.3
p.M2insFs
c.4dupA
1 paper
NM_033337.3
p.A3_E5del3
c.7_14del9
2 papers
NM_033337.3
p.A3_E5delFs
c.7_14del8
5 papers
NM_033337.3
p.A3V
c.8C>T
1 paper
NM_033337.3
p.E4fs
c.10_11fs
1 paper
NM_033337.3
p.E4fs
c.10_11fs
1 paper
NM_033337.3
p.E4V
c.11A>T
1 paper
NM_033337.3
p.E5insFs
c.13_14insG
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."