Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN2

CAVIN2

51 papers

RefSeq Summary

This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein is a substrate for protein kinase C (PKC) phosphorylation and recru...

Pfam Domains

PTRF_SDPRaa 52–294UCSCPTRF/SDPR family

Gene Aliases

HGNC Name

caveolae associated protein 2

HGNC Previous Symbol

SDPR

Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
5 papers
NM_004657.6
p.Q174E
c.520C>G
3 papers
NM_004657.6
p.P209H
c.626C>A
2 papers
NM_004657.6
p.M29K
c.86T>A
2 papers
NM_004657.6
p.E221G
c.662A>G
2 papers
NM_004657.6
p.R233*
c.697A>T
2 papers
NM_004657.6
p.E382G
c.1145A>G
1 paper
NM_004657.6
p.M1T
c.2T>C
1 paper
NM_004657.6
p.A6T
c.16G>A
1 paper
NM_004657.6
p.E9K
c.25G>A
1 paper
NM_004657.6
p.G15R
c.43G>C
1 paper
NM_004657.6
p.G15R
c.43G>A
1 paper
NM_004657.6
p.R19Q
c.56G>A
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