Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.I271T

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
6 papers
NM_001195.5
p.I271T
c.812T>C
Surrounding Variants
4 papers
NM_001195.5
p.E269K
c.805G>A
3 papers
NM_001195.5
p.R275C
c.823C>T
1 paper
NM_001195.5
p.E280V
c.839A>T
1 paper
NM_001195.5
p.C259insFs
c.776_777insG
1 paper
NM_001195.5
p.R283W
c.847C>T
2 papers
NM_001195.5
p.C259S
c.776G>C
NM_001161705.2
p.C134S
c.401G>C
2 papers
NM_001195.5
p.C259S
c.775T>A
NM_001161705.2
p.C134S
c.400T>A
1 paper
NM_001195.5
p.Y290*
c.870C>G
1 paper
NM_001195.5
p.Y290*
c.870C>A
1 paper
NM_001195.5
p.T248T
c.744T>A
1 paper
NM_001195.5
p.L295M
c.883C>A
1 paper
NM_001195.5
p.T247A
c.739A>G
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