Varaico: Literature-Extracted Genetic Variants

Gene:BFSP2
Variant:p.G112E

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
4 papers
NM_003571.4
p.G112E
c.335G>A
Surrounding Variants
1 paper
NM_003571.4
p.G112R
c.334G>A
1 paper
NM_003571.4
p.G112R
c.334G>C
1 paper
NM_003571.4
p.G112fs
c.334_335fs
1 paper
NM_003571.4
p.Y118D
c.352T>G
1 paper
NM_003571.4
p.H105_G106insFs
c.315_316insC
1 paper
NM_003571.4
p.G106_L111del6
c.316_332del18
2 papers
NM_003571.4
p.R103_D104insFs
c.309_310insA
1 paper
NM_003571.4
p.E126_Q127del0
c.376_381del6
1 paper
NM_003571.4
p.Q127E
c.379C>G
1 paper
NM_003571.4
p.V96A
c.287T>C
1 paper
NM_003571.4
p.S129_T134del6
c.385_401del18
1 paper
NM_003571.4
p.E133K
c.397G>A
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