Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.A89D

BFSP1

111 papers

RefSeq Summary

This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a c...

Pfam Domains

Filamentaa 41–198UCSCIntermediate filament protein

Gene Aliases

HGNC Name

beaded filament structural protein 1

HGNC Alias Symbols

CP94; CP115; LIFL-H; filensin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001195.5
p.A89D
c.266C>A
Surrounding Variants
1 paper
NM_001195.5
p.L88L
c.264C>T
1 paper
NM_001195.5
p.L88F
c.262C>T
1 paper
NM_001195.5
p.L88I
c.262C>A
1 paper
NM_001195.5
p.A87V
c.260C>T
1 paper
NM_001195.5
p.R98C
c.292C>T
1 paper
NM_001195.5
p.G79R
c.235G>C
1 paper
NM_001195.5
p.E105_R106insFs
c.315_316insC
1 paper
NM_001195.5
p.E110delins
c.329delinsT
1 paper
NM_001195.5
p.E110Fs
c.328_329delinsTFs
1 paper
NM_001195.5
p.R64S
c.190C>A
2 papers
NM_001195.5
p.L61L
c.183C>T
1 paper
NM_001195.5
p.A60P
c.178G>C
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