Varaico: Literature-Extracted Genetic Variants

Gene:FBL
Variant:p.K2*

FBL

142 papers

RefSeq Summary

This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, ...

Pfam Domains

Fibrillarinaa 88–315UCSCFibrillarin

Gene Aliases

HGNC Name

fibrillarin

HGNC Alias Symbols

RNU3IP1; FLRN; FIB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001436.4
p.K2*
c.4A>T
Surrounding Variants
1 paper
NM_001436.4
p.K2insFs
c.4_5ins10
1 paper
NM_001436.4
p.M1insFs
c.2_3insT
1 paper
NM_001436.4
p.M1I
c.3G>A
1 paper
NM_001436.4
p.M1K
c.2T>A
1 paper
NM_001436.4
p.K2K
c.6G>A
1 paper
NM_001436.4
p.M1insFs
c.1_2insT
1 paper
NM_001436.4
p.M1_K2insT
c.1_5ins3
1 paper
NM_001436.4
p.P7A
c.19C>G
1 paper
NM_001436.4
p.R8S
c.22C>A
1 paper
NM_001436.4
p.F12S
c.35T>C
1 paper
NM_001436.4
p.G13R
c.37G>C
1 paper
NM_001436.4
p.G13G
c.39C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."