Varaico: Literature-Extracted Genetic Variants

Gene:CELF6
Variant:p.R192Q

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.R192Q
c.575G>A
Surrounding Variants
1 paper
NM_052840.5
p.V179M
c.535G>A
1 paper
NM_052840.5
p.A177T
c.529G>A
1 paper
NM_052840.5
p.I160I
c.480C>T
1 paper
NM_052840.5
p.S204L
c.611C>T
2 papers
NM_052840.5
p.K210R
c.629A>G
1 paper
NM_052840.5
p.R151S
c.453A>T
1 paper
NM_052840.5
p.R151S
c.453A>C
1 paper
NM_052840.5
p.E148K
c.442G>A
1 paper
NM_052840.5
p.A219T
c.655G>A
1 paper
NM_052840.5
p.R221Q
c.662G>A
1 paper
NM_052840.5
p.G139G
c.417G>A
1 paper
NM_052840.5
p.Q225L
c.674A>T
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