Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.C116G

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.C116G
c.346T>G
Surrounding Variants
1 paper
NM_033337.3
p.E113K
c.337G>A
2 papers
NM_033337.3
p.I112I
c.336C>T
1 paper
NM_033337.3
p.I112N
c.335T>A
1 paper
NM_033337.3
p.I112T
c.335T>C
1 paper
NM_033337.3
p.C124S
c.370T>A
1 paper
NM_033337.3
p.C124R
c.370T>C
1 paper
NM_033337.3
p.C124S
c.371G>C
1 paper
NM_033337.3
p.I125T
c.374T>C
1 paper
NM_033337.3
p.R126C
c.376C>T
1 paper
NM_033337.3
p.C106fs
c.316_317fs
5 papers
NM_033337.3
p.R126H
c.377G>A
9 papers
NM_033337.3
p.P105L
c.314C>T
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