Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.E501A

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.E501A
c.1502A>C
Surrounding Variants
1 paper
NM_078480.3
p.E501D
c.1503G>T
1 paper
NM_078480.3
p.E501D
c.1503G>C
2 papers
NM_078480.3
p.I498del1
c.1492_1494delGAT
1 paper
NM_078480.3
p.E505A
c.1514A>C
1 paper
NM_078480.3
p.E506A
c.1517A>C
1 paper
NM_078480.3
p.E507A
c.1520A>C
1 paper
NM_078480.3
p.D508A
c.1523A>C
1 paper
NM_078480.3
p.E510A
c.1529A>C
3 papers
NM_078480.3
p.G491E
c.1472G>A
1 paper
NM_078480.3
p.G491R
c.1471G>C
1 paper
NM_078480.3
p.G491R
c.1471G>A
1 paper
NM_078480.3
p.C487R
c.1459T>C
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