Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.R469W

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.R469W
c.1405C>T
Surrounding Variants
2 papers
NM_001195.5
p.E468K
c.1402G>A
1 paper
NM_001161705.2
p.V348I
c.1042G>A
1 paper
NM_001195.5
p.G475A
c.1424G>C
2 papers
NM_001278607.2
p.T349I
c.1046C>T
1 paper
NM_001195.5
p.K449T
c.1346A>C
1 paper
NM_001195.5
p.A491T
c.1471G>A
1 paper
NM_001195.5
p.G493fs
c.1477_1478fs
1 paper
NM_001195.5
p.K492insFs
c.1476dupA
1 paper
NM_001195.5
p.L444L
c.1332A>G
1 paper
NM_001195.5
p.G494R
c.1480G>C
1 paper
NM_001195.5
p.G494R
c.1480G>A
2 papers
NM_001195.5
p.S498fs
c.1492_1493fs
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."