Varaico: Literature-Extracted Genetic Variants

Gene:CELF6
Variant:p.Q345*

CELF6

44 papers

RefSeq Summary

Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM ...

Pfam Domains

RRM_1aa 48–117UCSCRNA recognition motif
RRM_1aa 136–203UCSCRNA recognition motif
RRM_1aa 398–468UCSCRNA recognition motif

Gene Aliases

HGNC Name

CUGBP Elav-like family member 6

HGNC Previous Symbol

BRUNOL6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052840.5
p.Q345*
c.1033C>T
Surrounding Variants
1 paper
NM_052840.5
p.D351E
c.1053C>G
1 paper
NM_052840.5
p.D351E
c.1053C>A
1 paper
NM_052840.5
p.Q355*
c.1063C>T
1 paper
NM_052840.5
p.H361R
c.1082A>G
1 paper
NM_052840.5
p.Y363*
c.1089C>G
1 paper
NM_052840.5
p.N336H
c.1006A>C
1 paper
NM_052840.5
p.P310S
c.928C>T
1 paper
NM_052840.5
p.A294Splc
c.881-1G>A
1 paper
NM_052840.5
p.R390S
c.1170A>T
1 paper
NM_052840.5
p.R390S
c.1170A>C
1 paper
NM_052840.5
p.A292T
c.874G>A
1 paper
NM_052840.5
p.A287del1
c.859_860delCGC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."