Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.L8_Q9Splc

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
3 papers
NM_078480.3
p.L8_Q9Splc
c.24+1G>A
Surrounding Variants
5 papers
NM_078480.3
p.L8_Q9Splc
c.24+1G>C
1 paper
NM_078480.3
p.L8insFs
c.22dupC
1 paper
NM_078480.3
p.A7S
c.19G>T
1 paper
NM_078480.3
p.A4A
c.12G>C
1 paper
NM_078480.3
p.T3M
c.8C>T
2 papers
NM_078480.3
p.A2V
c.5C>T
1 paper
NM_078480.3
p.M1insFs
c.2dupT
1 paper
NM_078480.3
p.M1insFs
c.1dupA
1 paper
NM_078480.3
p.M1V
c.1A>G
1 paper
NM_078480.3
p.Q9fs
c.25_26fs
1 paper
NM_078480.3
p.G12C
c.34G>T
1 paper
NM_078480.3
p.G12D
c.35G>A
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