Varaico: Literature-Extracted Genetic Variants

Gene:BFSP2
Variant:p.R287W

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
14 papers
NM_003571.4
p.R287W
c.859C>T
Surrounding Variants
1 paper
NM_003571.4
p.E289K
c.865G>A
2 papers
NM_003571.4
p.L294F
c.880C>T
1 paper
NM_003571.4
p.K297R
c.890A>G
1 paper
NM_003571.4
p.D270N
c.808G>A
1 paper
NM_003571.4
p.Q259insFs
c.776_777insG
1 paper
NM_003571.4
p.L248L
c.742C>T
1 paper
NM_003571.4
p.V245V
c.735G>C
1 paper
NM_003571.4
p.E243_D244Splc
c.730-24T>C
1 paper
NM_003571.4
p.E243_D244Splc
c.729+2T>G
1 paper
NM_003571.4
p.E243_D244Splc
c.729+1G>A
1 paper
NM_003571.4
p.E243_D244Splc
c.729+1G>C
1 paper
NM_003571.4
p.E243_D244Splc
c.729+1G>T
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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."