Varaico: Literature-Extracted Genetic Variants

Gene:CELF5
Variant:p.Q364*

CELF5

32 papers

RefSeq Summary

This gene encodes a member of the the CELF/BRUNOL protein family, which contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa bet...

Pfam Domains

RRM_1aa 47–116UCSCRNA recognition motif
RRM_1aa 136–204UCSCRNA recognition motif
RRM_1aa 402–472UCSCRNA recognition motif

Gene Aliases

HGNC Name

CUGBP Elav-like family member 5

HGNC Previous Symbol

BRUNOL5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021938.4
p.Q364*
c.1090C>T
Surrounding Variants
2 papers
NM_021938.4
p.Q364L
c.1091A>T
1 paper
NM_021938.4
p.M369fs
c.1105_1106fs
1 paper
NM_021938.4
p.A379P
c.1135G>C
1 paper
NM_021938.4
p.T307T
c.921C>A
1 paper
NM_021938.4
p.S273S
c.819A>C
1 paper
NM_021938.4
p.V270M
c.808G>A
1 paper
NM_021938.4
p.R221R
c.663G>T
1 paper
NM_021938.4
p.T219M
c.656C>T
1 paper
NM_021938.4
p.T214M
c.641C>T
1 paper
NM_021938.4
p.G444S
c.1330G>A
1 paper
NM_021938.4
p.G196R
c.586G>A
1 paper
NM_021938.4
p.G196R
c.586G>C
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."