Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.S135T

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.S135T
c.403T>A
Surrounding Variants
4 papers
NM_078480.3
p.I136fs
c.406_407fs
1 paper
NM_078480.3
p.S135insFs
c.405dupT
3 papers
NM_078480.3
p.I136_Y137delFs
c.407_410del4
1 paper
NM_014281.5
p.Y115C
c.344A>G
3 papers
NM_078480.3
p.R130H
c.389G>A
1 paper
NM_078480.3
p.R130C
c.388C>T
3 papers
NM_078480.3
p.L140P
c.419T>C
3 papers
NM_078480.3
p.M128delFs
c.382_383delAT
1 paper
NM_078480.3
p.E142*
c.424G>T
1 paper
NM_078480.3
p.M128fs
c.382_383fs
1 paper
NM_078480.3
p.I145T
c.434T>C
1 paper
NM_078480.3
p.R146C
c.436C>T
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