Varaico: Literature-Extracted Genetic Variants

Gene:BFSP2
Variant:p.P62H

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.P62H
c.185C>A
Surrounding Variants
1 paper
NM_003571.4
p.S63S
c.189T>C
1 paper
NM_003571.4
p.G68D
c.203G>A
1 paper
NM_003571.4
p.P54S
c.160C>T
1 paper
NM_003571.4
p.R72_V73del1
c.216_218delTGT
1 paper
NM_003571.4
p.G49A
c.146G>C
1 paper
NM_003571.4
p.A77T
c.229G>A
1 paper
NM_003571.4
p.A46D
c.137C>A
1 paper
NM_003571.4
p.A46T
c.136G>A
1 paper
NM_003571.4
p.G79R
c.235G>C
1 paper
NM_003571.4
p.R43S
c.129G>C
1 paper
NM_003571.4
p.R43_N45del0
c.129_134del6
1 paper
NM_003571.4
p.S82N
c.245G>A
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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."