Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.V233fs

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
2 papers
NM_078480.3
p.V233fs
c.697_698fs
Surrounding Variants
1 paper
NM_078480.3
p.V233delFs
c.698delA
2 papers
NM_078480.3
p.V233delFs
c.698_699delCA
1 paper
NM_078480.3
p.A231P
c.691G>C
2 papers
NM_078480.3
p.V230delFs
c.688delC
1 paper
NM_078480.3
p.V230M
c.688G>A
2 papers
NM_078480.3
p.V230fs
c.688_689fs
2 papers
NM_078480.3
p.S238*
c.713C>G
2 papers
NM_078480.3
p.S238*
c.713C>A
1 paper
NM_078480.3
p.A224T
c.670G>A
1 paper
NM_078480.3
p.E220*
c.658G>T
1 paper
NM_078480.3
p.F249_K251delFs
c.747_751del5
2 papers
NM_078480.3
p.Q212_I214delFs
c.636_640del5
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