Varaico: Literature-Extracted Genetic Variants

Gene:FLOT1
Variant:p.S303C

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
1 paper
NM_005803.4
p.S303C
c.908C>G
Surrounding Variants
1 paper
NM_005803.4
p.Q308*
c.922C>T
2 papers
NM_005803.4
p.S315A
c.943T>G
1 paper
NM_005803.4
p.R319C
c.955C>T
1 paper
NM_005803.4
p.R319H
c.956G>A
1 paper
NM_005803.4
p.G320W
c.958G>T
1 paper
NM_005803.4
p.E323K
c.967G>A
1 paper
NM_005803.4
p.A351V
c.1052C>T
1 paper
NM_005803.4
p.R261_Q264del0
c.782_790del9
1 paper
NM_005803.4
p.V254A
c.761T>C
1 paper
NM_005803.4
p.A375P
c.1123G>C
1 paper
NM_005803.4
p.G389E
c.1166G>A
1 paper
NM_005803.4
p.D399Y
c.1195G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."