Varaico: Literature-Extracted Genetic Variants

Gene:BFSP2
Variant:p.D351G

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.D351G
c.1052A>G
Surrounding Variants
1 paper
NM_003571.4
p.L345P
c.1034T>C
1 paper
NM_003571.4
p.L341_K342Splc
c.1024-1G>C
1 paper
NM_003571.4
p.L363M
c.1087C>A
3 papers
NM_003571.4
p.G364D
c.1091G>A
1 paper
NM_003571.4
p.L370P
c.1109T>C
1 paper
NM_003571.4
p.A372T
c.1114G>A
1 paper
NM_003571.4
p.E376_A381del6
c.1126_1142del18
1 paper
NM_003571.4
p.A379E
c.1136C>A
1 paper
NM_003571.4
p.A381S
c.1141G>T
1 paper
NM_003571.4
p.A381V
c.1142C>T
1 paper
NM_003571.4
p.Q385*
c.1153C>T
1 paper
NM_003571.4
p.E387K
c.1159G>A
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