Varaico: Literature-Extracted Genetic Variants

Gene:CELF5

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
1–12 of 25 variants
2 papers
NM_021938.4
p.Q364L
c.1091A>T
1 paper
NM_021938.4
p.M1insFs
c.2dupT
1 paper
NM_021938.4
p.E8insFs
c.22dupG
1 paper
NM_021938.4
p.R10P
c.29G>C
1 paper
NM_021938.4
p.E30fs
c.88_89fs
1 paper
NM_021938.4
p.P31insFs
c.91dupC
1 paper
NM_021938.4
p.A99T
c.295G>A
1 paper
NM_021938.4
p.G114E
c.341G>A
1 paper
NM_021938.4
p.C163R
c.487T>C
1 paper
NM_021938.4
p.A189V
c.566C>T
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."