Varaico: Literature-Extracted Genetic Variants

Gene:FLOT2
Variant:p.D379E

FLOT2

63 papers

RefSeq Summary

Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. This gene encodes a caveolae-associated, integral membrane protein, which is thought to...

Pfam Domains

Band_7aa 5–188UCSCSPFH domain / Band 7 family

Gene Aliases

HGNC Name

flotillin 2

HGNC Previous Symbol

M17S1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004475.3
p.D379E
c.1137T>A
Surrounding Variants
2 papers
NM_004475.3
p.D379E
c.1137T>G
1 paper
NM_004475.3
p.V378A
c.1133T>C
1 paper
NM_004475.3
p.V382M
c.1144G>A
1 paper
NM_004475.3
p.I420F
c.1258A>T
1 paper
NM_004475.3
p.D353Y
c.1057G>T
1 paper
NM_004475.3
p.A347T
c.1039G>A
1 paper
NM_004475.3
p.A332V
c.995C>T
3 papers
NM_004475.3
p.A328T
c.982G>A
1 paper
NM_004475.3
p.A325V
c.974C>T
1 paper
NM_004475.3
p.E315Q
c.943G>C
1 paper
NM_004475.3
p.E293K
c.877G>A
1 paper
NM_004475.3
p.E291K
c.871G>A
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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."