Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.M287insFs

PUF60

136 papers

RefSeq Summary

This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex wi...

Pfam Domains

RRM_1aa 168–238UCSCRNA recognition motif
RRM_1aa 265–335UCSCRNA recognition motif

Gene Aliases

HGNC Name

poly(U) binding splicing factor 60

HGNC Alias Symbols

FIR; SIAHBP1; RoBPI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_078480.3
p.M287insFs
c.860dupT
Surrounding Variants
1 paper
NM_078480.3
p.M287fs
c.859_860fs
1 paper
NM_078480.3
p.S285insFs
c.853dupT
1 paper
NM_078480.3
p.S285fs
c.853_854fs
1 paper
NM_078480.3
p.V284insFs
c.850dupG
1 paper
NM_078480.3
p.A283delFs
c.848_849delAG
1 paper
NM_078480.3
p.A283fs
c.847_848fs
1 paper
NM_001136033.3
p.G251insFs
c.752dupG
2 papers
NM_078480.3
p.Q295fs
c.883_884fs
1 paper
NM_078480.3
p.G294_Q295delFs
c.882_885del4
1 paper
NM_078480.3
p.Q278delFs
c.832_833delTG
2 papers
NM_078480.3
p.R298W
c.892C>T
1 paper
NM_078480.3
p.E275D
c.825G>T
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