Varaico: Literature-Extracted Genetic Variants

Gene:BFSP1
Variant:p.E375delFs

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
3 papers
NM_001195.5
p.E375delFs
c.1124delT
Surrounding Variants
1 paper
NM_001195.5
p.E375E
c.1125G>A
1 paper
NM_001195.5
p.E375G
c.1124A>G
1 paper
NM_001195.5
p.R373delFs
c.1119delT
1 paper
NM_001195.5
p.E375fs
c.1123_1124fs
1 paper
NM_001195.5
p.N383S
c.1148A>G
1 paper
NM_001424338.1
p.G348R
c.1042G>A
1 paper
NM_001195.5
p.L386L
c.1158G>A
1 paper
NM_001195.5
p.K360delFs
c.1080delT
1 paper
NM_001195.5
p.K360fs
c.1078_1079fs
6 papers
NM_001195.5
p.D348N
c.1042G>A
1 paper
NM_001424338.1
p.K375delFs
c.1124delT
1 paper
NM_001195.5
p.E415K
c.1243G>A
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