Varaico: Literature-Extracted Genetic Variants

Gene:BFSP2
Variant:p.E224insFs

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.E224insFs
c.670_671insA
Surrounding Variants
1 paper
NM_003571.4
p.S229N
c.686G>A
1 paper
NM_003571.4
p.L218*
c.653T>A
16 papers
NM_003571.4
p.E233del1
c.697_698delGAA
1 paper
NM_003571.4
p.N217delFs
c.650delA
1 paper
NM_003571.4
p.E232_L234ins1
c.696_701dup6
1 paper
NM_003571.4
p.A216_L218del3
c.646_653del9
1 paper
NM_003571.4
p.L234F
c.700C>T
1 paper
NM_003571.4
p.D214_T219delFs
c.640_656del17
1 paper
NM_003571.4
p.Y241*
c.723T>A
1 paper
NM_003571.4
p.Y241*
c.723T>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
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