Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.S520delFs

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.S520delFs
c.1560delG
Surrounding Variants
1 paper
NM_078480.3
p.I521fs
c.1561_1562fs
2 papers
NM_078480.3
p.E524*
c.1570G>T
3 papers
NM_078480.3
p.H526fs
c.1576_1577fs
1 paper
NM_078480.3
p.K527_A528insCCA
c.1579_1583ins9
1 paper
NM_078480.3
p.H526_I529delFs
c.1577_1587del11
1 paper
NM_078480.3
p.E510A
c.1529A>C
1 paper
NM_078480.3
p.L532F
c.1594C>T
1 paper
NM_078480.3
p.L532delFs
c.1594delG
1 paper
NM_078480.3
p.D508A
c.1523A>C
1 paper
NM_078480.3
p.E507A
c.1520A>C
1 paper
NM_078480.3
p.E506A
c.1517A>C
1 paper
NM_078480.3
p.E505A
c.1514A>C
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