Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.E4V

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.E4V
c.11A>T
Surrounding Variants
1 paper
NM_033337.3
p.E5insFs
c.13_14insG
1 paper
NM_033337.3
p.E4E
c.12A>G
1 paper
NM_033337.3
p.E4fs
c.10_11fs
1 paper
NM_033337.3
p.E4fs
c.10_11fs
5 papers
NM_033337.3
p.A3V
c.8C>T
2 papers
NM_033337.3
p.A3_E5delFs
c.7_14del8
1 paper
NM_033337.3
p.T7_V14del8
c.19_41del24
1 paper
NM_033337.3
p.A3_E5del3
c.7_14del9
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.M1T
c.2T>C
1 paper
NM_033337.3
p.M1insFs
c.2_3insT
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