Varaico: Literature-Extracted Genetic Variants

Gene:BFSP2
Variant:p.S34P

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
2 papers
NM_003571.4
p.S34P
c.100T>C
Surrounding Variants
1 paper
NM_003571.4
p.E37K
c.109G>A
2 papers
NM_003571.4
p.S38N
c.113G>A
1 paper
NM_003571.4
p.G29V
c.86G>T
1 paper
NM_003571.4
p.P40_A41del2
c.118_122del6
1 paper
NM_003571.4
p.P39R
c.116C>G
1 paper
NM_003571.4
p.F27fs
c.79_80fs
1 paper
NM_003571.4
p.S26delFs
c.78delC
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.R43_N45del0
c.129_134del6
1 paper
NM_003571.4
p.R43S
c.129G>C
1 paper
NM_003571.4
p.R22S
c.66G>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."