Varaico: Literature-Extracted Genetic Variants

Gene:BFSP2
Variant:p.R339H

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
8 papers
NM_003571.4
p.R339H
c.1016G>A
Surrounding Variants
1 paper
NM_003571.4
p.R339P
c.1016G>C
1 paper
NM_003571.4
p.R339C
c.1015C>T
1 paper
NM_003571.4
p.S330G
c.988A>G
1 paper
NM_003571.4
p.S330fs
c.988_989fs
1 paper
NM_003571.4
p.R318S
c.954G>C
1 paper
NM_003571.4
p.R318S
c.954G>T
1 paper
NM_003571.4
p.A315P
c.943G>C
1 paper
NM_003571.4
p.A315_A316insC
c.943_947ins3
1 paper
NM_003571.4
p.A314V
c.941C>T
2 papers
NM_003571.4
p.Q309_E310insA
c.925_929ins3
1 paper
NM_003571.4
p.V302A
c.905T>C
1 paper
NM_003571.4
p.L341_K342Splc
c.1024-1G>C
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