Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.R11C

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
2 papers
NM_001195.5
p.R11C
c.31C>T
Surrounding Variants
1 paper
NM_001195.5
p.R11H
c.32G>A
1 paper
NM_001195.5
p.S5delFs
c.15delG
1 paper
NM_001195.5
p.R4H
c.11G>A
1 paper
NM_001195.5
p.R29H
c.86G>A
1 paper
NM_001195.5
p.P30P
c.90G>A
1 paper
NM_001195.5
p.A31A
c.93C>A
1 paper
NM_001195.5
p.G37R
c.109G>A
1 paper
NM_001195.5
p.T39R
c.116C>G
1 paper
NM_001195.5
p.L44Q
c.131T>A
1 paper
NM_001195.5
p.G46R
c.136G>A
1 paper
NM_001195.5
p.G46V
c.137G>T
1 paper
NM_001195.5
p.G48S
c.142G>A
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