Varaico: Literature-Extracted Genetic Variants

Gene:CELF3
Variant:p.P317_L318del1

CELF3

53 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 9–78UCSCRNA recognition motif
RRM_1aa 97–165UCSCRNA recognition motif
RRM_1aa 382–452UCSCRNA recognition motif

Gene Aliases

HGNC Name

CUGBP Elav-like family member 3

HGNC Previous Symbol

TNRC4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007185.7
p.P317_L318del1
c.951_953delAGG
Surrounding Variants
1 paper
NM_007185.7
p.P314_L318del0
c.942_953del12
1 paper
NM_007185.7
p.L318ins3
c.953_954ins9
1 paper
NM_007185.7
p.Q319*
c.955C>T
1 paper
NM_007185.7
p.P317_L318del2
c.949_953del6
1 paper
NM_007185.7
p.P314_L318del5
c.940_953del15
1 paper
NM_007185.7
p.P317_A321del0
c.951_962del12
3 papers
NM_007185.7
p.Q367_Q368del1
c.1101_1103delTGC
1 paper
NM_007185.7
p.Q365_Q373del0
c.1095_1118del24
2 papers
NM_007185.7
p.Q373del1
c.1117_1118delTTG
1 paper
NM_007185.7
p.N280S
c.839A>G
1 paper
NM_007185.7
p.V279I
c.835G>A
1 paper
NM_007185.7
p.A266T
c.796G>A
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