Varaico: Literature-Extracted Genetic Variants

Gene:CAV1
Variant:p.I109L

CAV1

280 papers

RefSeq Summary

The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiat...

Pfam Domains

Caveolinaa 42–175UCSCCaveolin

Gene Aliases

HGNC Name

caveolin 1

HGNC Previous Names

caveolin 1, caveolae protein, 22kD; caveolin 1, caveolae protein, 22kDa

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001753.5
p.I109L
c.325A>C
Surrounding Variants
1 paper
NM_001753.5
p.I109V
c.325A>G
1 paper
NM_001753.5
p.I109insFs
c.325dupA
1 paper
NM_001753.5
p.G108A
c.323G>C
1 paper
NM_001753.5
p.P110T
c.328C>A
4 papers
NM_001753.5
p.P110A
c.328C>G
1 paper
NM_001753.5
p.P110L
c.329C>T
1 paper
NM_001753.5
p.M111V
c.331A>G
1 paper
NM_001753.5
p.A112_L113del1
c.336_338delACT
1 paper
NM_001753.5
p.L113del1
c.337_338delCTC
2 papers
NM_001753.5
p.R101S
c.301C>A
5 papers
NM_001753.5
p.Y118H
c.352T>C
1 paper
NM_001753.5
p.Y118S
c.353A>C
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