Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.C124S

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.C124S
c.370T>A
Surrounding Variants
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
5 papers
NM_033337.3
p.R126H
c.377G>A
1 paper
NM_033337.3
p.T127A
c.379A>G
1 paper
NM_033337.3
p.T127N
c.380C>A
1 paper
NM_033337.3
p.C116G
c.346T>G
1 paper
NM_033337.3
p.A134delFs
c.400delG
1 paper
NM_033337.3
p.A134T
c.400G>A
1 paper
NM_033337.3
p.A134P
c.400G>C
1 paper
NM_033337.3
p.A134S
c.400G>T
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