Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.Q56*

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.Q56*
c.166C>T
Surrounding Variants
1 paper
NM_001195.5
p.V55V
c.165C>A
2 papers
NM_001195.5
p.H54Y
c.160C>T
1 paper
NM_001195.5
p.R59S
c.175C>A
1 paper
NM_001195.5
p.A60P
c.178G>C
1 paper
NM_001195.5
p.V51M
c.151G>A
1 paper
NM_001195.5
p.R50H
c.149G>A
2 papers
NM_001195.5
p.L61L
c.183C>T
1 paper
NM_001195.5
p.G48S
c.142G>A
1 paper
NM_001195.5
p.R64S
c.190C>A
1 paper
NM_001195.5
p.G46V
c.137G>T
1 paper
NM_001195.5
p.G46R
c.136G>A
1 paper
NM_001195.5
p.L44Q
c.131T>A
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."