Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.V81del1

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_001271096.2
p.V81del1
c.241_242delCAC
Surrounding Variants
1 paper
NM_078480.3
p.L83L
c.247C>T
1 paper
NM_078480.3
p.K80_I88del0
c.238_264del27
1 paper
NM_078480.3
p.H90H
c.270C>T
1 paper
NM_078480.3
p.A74V
c.221C>T
1 paper
NM_078480.3
p.A70S
c.208G>T
1 paper
NM_078480.3
p.Q99_M100Splc
c.297+1G>C
2 papers
NM_078480.3
p.K69delFs
c.206delT
1 paper
NM_078480.3
p.G55delFs
c.163delC
1 paper
NM_078480.3
p.G55fs
c.163_164fs
1 paper
NM_078480.3
p.G55G
c.165G>C
1 paper
NM_078480.3
p.G55G
c.165G>A
1 paper
NM_078480.3
p.G55V
c.164G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."