Varaico: Literature-Extracted Genetic Variants

Gene:BFSP2
Variant:p.M18L

BFSP2

154 papers

RefSeq Summary

More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakini...

Pfam Domains

Filamentaa 105–415UCSCIntermediate filament protein

Gene Aliases

HGNC Name

beaded filament structural protein 2

HGNC Alias Symbols

CP47; CP49; LIFL-L; phakinin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003571.4
p.M18L
c.52A>T
Surrounding Variants
1 paper
NM_003571.4
p.M18L
c.52A>C
1 paper
NM_003571.4
p.R22S
c.66G>C
1 paper
NM_003571.4
p.S13I
c.38G>T
1 paper
NM_003571.4
p.R22S
c.66G>T
1 paper
NM_003571.4
p.P11S
c.31C>T
2 papers
NM_003571.4
p.A25A
c.75G>A
1 paper
NM_003571.4
p.A25A
c.75G>T
1 paper
NM_003571.4
p.S26delFs
c.78delC
1 paper
NM_003571.4
p.F27fs
c.79_80fs
1 paper
NM_003571.4
p.V7A
c.20T>C
1 paper
NM_003571.4
p.G29V
c.86G>T
2 papers
NM_003571.4
p.S34P
c.100T>C
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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."