Varaico: Literature-Extracted Genetic Variants

Gene:BFSP2
Variant:p.L140L

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.L140L
c.418C>T
Surrounding Variants
1 paper
NM_003571.4
p.R146C
c.436C>T
1 paper
NM_003571.4
p.R146H
c.437G>A
1 paper
NM_003571.4
p.E133K
c.397G>A
1 paper
NM_003571.4
p.S129_T134del6
c.385_401del18
1 paper
NM_003571.4
p.Q127E
c.379C>G
1 paper
NM_003571.4
p.E126_Q127del0
c.376_381del6
1 paper
NM_003571.4
p.W157*
c.470G>A
1 paper
NM_003571.4
p.W157*
c.471G>A
1 paper
NM_003571.4
p.A158P
c.472G>C
1 paper
NM_003571.4
p.Y118D
c.352T>G
4 papers
NM_003571.4
p.G112E
c.335G>A
1 paper
NM_003571.4
p.G112R
c.334G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."