Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.L444L

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.L444L
c.1332A>G
Surrounding Variants
1 paper
NM_001195.5
p.K449T
c.1346A>C
2 papers
NM_001278607.2
p.T349I
c.1046C>T
1 paper
NM_001195.5
p.P428T
c.1282C>A
1 paper
NM_001278608.2
p.L283L
c.847C>T
2 papers
NM_001195.5
p.E468K
c.1402G>A
1 paper
NM_001195.5
p.R469W
c.1405C>T
1 paper
NM_001161705.2
p.V348I
c.1042G>A
1 paper
NM_001195.5
p.E415K
c.1243G>A
1 paper
NM_001195.5
p.G475A
c.1424G>C
1 paper
NM_001424338.1
p.K375delFs
c.1124delT
1 paper
NM_001195.5
p.A491T
c.1471G>A
1 paper
NM_001195.5
p.G493fs
c.1477_1478fs
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