Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.A500A

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
4 papers
NM_001195.5
p.A500A
c.1500G>A
Surrounding Variants
1 paper
NM_001195.5
p.A500V
c.1499C>T
2 papers
NM_001195.5
p.S498delFs
c.1492delA
2 papers
NM_001195.5
p.S498fs
c.1492_1493fs
1 paper
NM_001195.5
p.V504L
c.1510G>T
2 papers
NM_001424338.1
p.V468M
c.1402G>A
NM_001195.5
p.V504M
c.1510G>A
1 paper
NM_001195.5
p.G494R
c.1480G>C
1 paper
NM_001195.5
p.G494R
c.1480G>A
1 paper
NM_001195.5
p.G493fs
c.1477_1478fs
1 paper
NM_001195.5
p.K492insFs
c.1476dupA
1 paper
NM_001195.5
p.A491T
c.1471G>A
2 papers
NM_001195.5
p.E522Q
c.1564G>C
1 paper
NM_001195.5
p.Q525R
c.1574A>G
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