Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.S540_*541delFs

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_001161705.2
p.S540_*541delFs
c.1620_1621delAA
Surrounding Variants
2 papers
NM_001195.5
p.E647Q
c.1939G>C
1 paper
NM_001195.5
p.V646L
c.1936G>T
1 paper
NM_001195.5
p.V646L
c.1936G>C
1 paper
NM_001195.5
p.T642T
c.1926C>T
1 paper
NM_001195.5
p.E626K
c.1876G>A
2 papers
NM_001195.5
p.P609Q
c.1826C>A
3 papers
NM_001195.5
p.G602R
c.1804G>C
3 papers
NM_001195.5
p.G602R
c.1804G>A
1 paper
NM_001161705.2
p.A468T
c.1402G>A
4 papers
NM_001195.5
p.P583P
c.1749A>G
1 paper
NM_001195.5
p.P583L
c.1748C>T
1 paper
NM_001424338.1
p.E494K
c.1480G>A
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