Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.P205delFs

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.P205delFs
c.615delG
Surrounding Variants
1 paper
NM_078480.3
p.S206fs
c.616_617fs
3 papers
NM_078480.3
p.N207fs
c.619_620fs
1 paper
NM_078480.3
p.N207S
c.620A>G
4 papers
NM_078480.3
p.Q210*
c.628C>T
3 papers
NM_078480.3
p.K201_V202Splc
c.604-2A>G
3 papers
NM_078480.3
p.K201_V202Splc
c.604-2A>C
1 paper
NM_078480.3
p.R204_Q210delFs
c.612_630del19
2 papers
NM_078480.3
p.Q212_I214delFs
c.636_640del5
1 paper
NM_078480.3
p.E220*
c.658G>T
1 paper
NM_078480.3
p.A224T
c.670G>A
1 paper
NM_078480.3
p.V230M
c.688G>A
2 papers
NM_078480.3
p.V230fs
c.688_689fs
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