Varaico: Literature-Extracted Genetic Variants

Gene:BFSP2
Variant:p.E204fs

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.E204fs
c.610_611fs
Surrounding Variants
1 paper
NM_003571.4
p.E203A
c.608A>C
1 paper
NM_003571.4
p.E203Q
c.607G>C
5 papers
NM_003571.4
p.A201A
c.603G>A
1 paper
NM_003571.4
p.A201V
c.602C>T
2 papers
NM_003571.4
p.A201T
c.601G>A
4 papers
NM_003571.4
p.A201fs
c.601_602fs
1 paper
NM_003571.4
p.A201_A202insFs
c.601_604dup4
1 paper
NM_003571.4
p.K200_A201insFs
c.599_602dup4
4 papers
NM_003571.4
p.K200insFs
c.598_599dupAA
1 paper
NM_003571.4
p.E195G
c.584A>G
1 paper
NM_003571.4
p.D214_T219delFs
c.640_656del17
1 paper
NM_003571.4
p.A216_L218del3
c.646_653del9
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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."