Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.M433delFs

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.M433delFs
c.1297_1298delAT
Surrounding Variants
1 paper
NM_078480.3
p.E438K
c.1312G>A
5 papers
NM_078480.3
p.R448*
c.1342C>T
1 paper
NM_078480.3
p.R448fs
c.1342_1343fs
3 papers
NM_078480.3
p.Q453*
c.1357C>T
1 paper
NM_078480.3
p.P407_L410del4
c.1219_1229del12
6 papers
NM_078480.3
p.H449_R457del9
c.1345_1370del27
1 paper
NM_078480.3
p.I394I
c.1182C>T
2 papers
NM_078480.3
p.I394fs
c.1180_1181fs
2 papers
NM_078480.3
p.T393delFs
c.1179delG
1 paper
NM_078480.3
p.P391_T393delFs
c.1172_1179del8
2 papers
NM_078480.3
p.P391ins1
c.1172_1173insATA
2 papers
NM_078480.3
p.P385_P389delFs
c.1154_1166del13
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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."