Varaico: Literature-Extracted Genetic Variants

Gene:BFSP2

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
1–12 of 127 variants
16 papers
NM_003571.4
p.E233del1
c.697_698delGAA
14 papers
NM_003571.4
p.R287W
c.859C>T
8 papers
NM_003571.4
p.R339H
c.1016G>A
5 papers
NM_003571.4
p.A201A
c.603G>A
4 papers
NM_003571.4
p.G112E
c.335G>A
4 papers
NM_003571.4
p.K200insFs
c.598_599dupAA
4 papers
NM_003571.4
p.A201fs
c.601_602fs
3 papers
NM_003571.4
p.G364D
c.1091G>A
2 papers
NM_003571.4
p.A25A
c.75G>A
2 papers
NM_003571.4
p.S34P
c.100T>C
2 papers
NM_003571.4
p.S38N
c.113G>A
2 papers
NM_003571.4
p.R89W
c.265C>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."