Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.K170_G171Splc

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.K170_G171Splc
c.510+1G>T
Surrounding Variants
9 papers
NM_078480.3
p.H169Y
c.505C>T
1 paper
NM_078480.3
p.H169N
c.505C>A
1 paper
NM_078480.3
p.V165I
c.493G>A
1 paper
NM_078480.3
p.D163Y
c.487G>T
1 paper
NM_078480.3
p.D159H
c.475G>C
5 papers
NM_078480.3
p.D159N
c.475G>A
7 papers
NM_078480.3
p.A150_G153del0
c.449_457del9
4 papers
NM_078480.3
p.Q147*
c.439C>T
1 paper
NM_078480.3
p.R146H
c.437G>A
1 paper
NM_078480.3
p.R146C
c.436C>T
1 paper
NM_078480.3
p.I145T
c.434T>C
1 paper
NM_078480.3
p.E142*
c.424G>T
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