Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.R123G

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.R123G
c.367C>G
Surrounding Variants
3 papers
NM_078480.3
p.R123W
c.367C>T
1 paper
NM_078480.3
p.M128fs
c.382_383fs
1 paper
NM_078480.3
p.M117R
c.350T>G
3 papers
NM_078480.3
p.M128delFs
c.382_383delAT
2 papers
NM_078480.3
p.M117fs
c.349_350fs
1 paper
NM_078480.3
p.R130C
c.388C>T
3 papers
NM_078480.3
p.R130H
c.389G>A
1 paper
NM_014281.5
p.Y115C
c.344A>G
2 papers
NM_078480.3
p.S116_M117Splc
c.349-13T>A
1 paper
NM_078480.3
p.S135T
c.403T>A
4 papers
NM_078480.3
p.I136fs
c.406_407fs
1 paper
NM_078480.3
p.S135insFs
c.405dupT
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