Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN2
Variant:p.Q174E

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
Selected Variant
5 papers
NM_004657.6
p.Q174E
c.520C>G
Surrounding Variants
1 paper
NM_004657.6
p.K173E
c.517A>G
1 paper
NM_004657.6
p.V170A
c.509T>C
1 paper
NM_004657.6
p.V180M
c.538G>A
1 paper
NM_004657.6
p.E185K
c.553G>A
1 paper
NM_004657.6
p.Q161_E162Splc
c.484-10G>A
1 paper
NM_004657.6
p.S204*
c.611C>G
3 papers
NM_004657.6
p.P209H
c.626C>A
2 papers
NM_004657.6
p.E221G
c.662A>G
2 papers
NM_004657.6
p.R233*
c.697A>T
1 paper
NM_004657.6
p.V263L
c.787G>T
1 paper
NM_004657.6
p.V263L
c.787G>C
1 paper
NM_004657.6
p.K273insFs
c.817dupA
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