Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.W58R

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.W58R
c.172T>A
Surrounding Variants
2 papers
NM_033337.3
p.W58R
c.172T>C
3 papers
NM_033337.3
p.V57V
c.171G>A
12 papers
NM_033337.3
p.V57M
c.169G>A
1 paper
NM_033337.3
p.G56G
c.168C>A
17 papers
NM_033337.3
p.G56S
c.166G>A
1 paper
NM_033337.3
p.G56R
c.166G>C
3 papers
NM_033337.3
p.S61R
c.181A>C
1 paper
NM_033337.3
p.S61C
c.181A>T
2 papers
NM_033337.3
p.D55N
c.163G>A
1 paper
NM_033337.3
p.D55_T63delFs
c.165_187del23
1 paper
NM_033337.3
p.Y62_F65del4
c.184_194del12
5 papers
NM_033337.3
p.S61R
c.183C>A
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