Varaico: Literature-Extracted Genetic Variants

Gene:CAV2
Variant:p.G2A

CAV2

69 papers

RefSeq Summary

The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal tr...

Pfam Domains

Caveolinaa 16–160UCSCCaveolin

Gene Aliases

HGNC Name

caveolin 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001233.5
p.G2A
c.5G>C
Surrounding Variants
1 paper
NM_001233.5
p.L3L
c.7C>T
1 paper
NM_001233.5
p.M1K
c.2T>A
1 paper
NM_001233.5
p.F13L
c.39C>A
1 paper
NM_001233.5
p.D16A
c.47A>C
2 papers
NM_001233.5
p.S23G
c.67A>G
1 paper
NM_001233.5
p.A28G
c.83C>G
2 papers
NM_001233.5
p.K32R
c.95A>G
1 paper
NM_001233.5
p.K32K
c.96G>A
1 paper
NM_001233.5
p.P42T
c.124C>A
1 paper
NM_001233.5
p.P42S
c.124C>T
1 paper
NM_001233.5
p.P42P
c.126C>A
1 paper
NM_001233.5
p.L49I
c.145C>A
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