Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.V525E

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_014281.5
p.V525E
c.1574T>A
NM_078480.3
p.V542E
c.1625T>A
Surrounding Variants
1 paper
NM_078480.3
p.Y547C
c.1640A>G
2 papers
NM_078480.3
p.R551C
c.1651C>T
1 paper
NM_078480.3
p.L532delFs
c.1594delG
1 paper
NM_078480.3
p.L532F
c.1594C>T
2 papers
NM_078480.3
p.D553G
c.1658A>G
1 paper
NM_078480.3
p.H526_I529delFs
c.1577_1587del11
1 paper
NM_078480.3
p.K527_A528insCCA
c.1579_1583ins9
2 papers
NM_078480.3
p.S558fs
c.1672_1673fs
1 paper
NM_078480.3
p.S558C
c.1673C>G
1 paper
NM_078480.3
p.S558fs
c.1672_1673fs
3 papers
NM_078480.3
p.H526fs
c.1576_1577fs
2 papers
NM_078480.3
p.S558delFs
c.1673_1674delAG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."