Varaico: Literature-Extracted Genetic Variants

Gene:FLOT1
Variant:p.R168Q

FLOT1

56 papers

RefSeq Summary

This gene encodes an protein that localizes to the caveolae, which are small domains on the inner cell membranes. This protein plays a role in vesicle trafficking and cell morphology. Alternative spli...

Pfam Domains

Band_7aa 3–185UCSCSPFH domain / Band 7 family

Gene Aliases

HGNC Name

flotillin 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005803.4
p.R168Q
c.503G>A
Surrounding Variants
1 paper
NM_005803.4
p.Q158_D159Splc
c.475-22A>G
1 paper
NM_005803.4
p.N141K
c.423C>G
1 paper
NM_005803.4
p.K122K
c.366G>A
1 paper
NM_005803.4
p.A194D
c.581C>A
1 paper
NM_005803.4
p.T229A
c.685A>G
1 paper
NM_005803.4
p.L236V
c.706C>G
1 paper
NM_005803.4
p.L240R
c.719T>G
1 paper
NM_005803.4
p.V71A
c.212T>C
1 paper
NM_005803.4
p.L43P
c.128T>C
1 paper
NM_005803.4
p.I35I
c.105C>A
1 paper
NM_005803.4
p.V24G
c.71T>G
1 paper
NM_005803.4
p.V254A
c.761T>C
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