Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.Q336*

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.Q336*
c.1006C>T
Surrounding Variants
2 papers
NM_078480.3
p.Q336_E337Splc
c.1008+1G>A
1 paper
NM_078480.3
p.A328P
c.982G>C
1 paper
NM_078480.3
p.A321S
c.961G>T
1 paper
NM_078480.3
p.A313A
c.939C>A
1 paper
NM_078480.3
p.T311_P312delFs
c.931_934del4
1 paper
NM_078480.3
p.T311insFs
c.931_932ins4
1 paper
NM_078480.3
p.T311delFs
c.931delT
3 papers
NM_078480.3
p.T311fs
c.931_932fs
2 papers
NM_078480.3
p.L310F
c.928C>T
3 papers
NM_078480.3
p.K301*
c.901A>T
2 papers
NM_078480.3
p.G300D
c.899G>A
2 papers
NM_078480.3
p.R298W
c.892C>T
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