Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.R283W

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.R283W
c.847C>T
Surrounding Variants
1 paper
NM_001195.5
p.E280V
c.839A>T
1 paper
NM_001195.5
p.Y290*
c.870C>G
1 paper
NM_001195.5
p.Y290*
c.870C>A
3 papers
NM_001195.5
p.R275C
c.823C>T
6 papers
NM_001195.5
p.I271T
c.812T>C
1 paper
NM_001195.5
p.L295M
c.883C>A
1 paper
NM_001195.5
p.A296fs
c.886_887fs
1 paper
NM_001195.5
p.A296delFs
c.886delC
4 papers
NM_001195.5
p.E269K
c.805G>A
1 paper
NM_001195.5
p.A298T
c.892G>A
1 paper
NM_001195.5
p.L302P
c.905T>C
1 paper
NM_001195.5
p.C259insFs
c.776_777insG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."