Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.R448fs

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.R448fs
c.1342_1343fs
Surrounding Variants
5 papers
NM_078480.3
p.R448*
c.1342C>T
3 papers
NM_078480.3
p.Q453*
c.1357C>T
1 paper
NM_078480.3
p.E438K
c.1312G>A
6 papers
NM_078480.3
p.H449_R457del9
c.1345_1370del27
1 paper
NM_078480.3
p.M433delFs
c.1297_1298delAT
1 paper
NM_078480.3
p.P407_L410del4
c.1219_1229del12
2 papers
NM_078480.3
p.E460_S461Splc
c.1381-2A>G
1 paper
NM_078480.3
p.S461C
c.1382C>G
1 paper
NM_014281.5
p.T445I
c.1334C>T
1 paper
NM_078480.3
p.V463L
c.1387G>T
1 paper
NM_078480.3
p.R467G
c.1399C>G
1 paper
NM_078480.3
p.N468Y
c.1402A>T
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