Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.G16V

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.G16V
c.47G>T
Surrounding Variants
1 paper
NM_078480.3
p.S18F
c.53C>T
1 paper
NM_078480.3
p.G12D
c.35G>A
1 paper
NM_078480.3
p.G12C
c.34G>T
1 paper
NM_078480.3
p.Q9fs
c.25_26fs
1 paper
NM_078480.3
p.Q37Q
c.111G>A
1 paper
NM_078480.3
p.M44T
c.131T>C
1 paper
NM_078480.3
p.Q48*
c.142C>T
1 paper
NM_078480.3
p.A52S
c.154G>T
1 paper
NM_078480.3
p.G55V
c.164G>T
1 paper
NM_078480.3
p.G55A
c.164G>C
1 paper
NM_078480.3
p.G55fs
c.163_164fs
1 paper
NM_078480.3
p.G55G
c.165G>C
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