Varaico: Literature-Extracted Genetic Variants

Gene:CELF6
Variant:p.S99A

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.S99A
c.295T>G
Surrounding Variants
1 paper
NM_052840.5
p.A96T
c.286G>A
1 paper
NM_052840.5
p.D61E
c.183C>G
1 paper
NM_052840.5
p.D61E
c.183C>A
1 paper
NM_052840.5
p.I46M
c.138C>G
1 paper
NM_052840.5
p.D44N
c.130G>A
1 paper
NM_052840.5
p.M40T
c.119T>C
1 paper
NM_052840.5
p.V38I
c.112G>A
1 paper
NM_052840.5
p.P34P
c.102C>G
1 paper
NM_052840.5
p.L32L
c.96A>T
1 paper
NM_052840.5
p.G26A
c.77G>C
1 paper
NM_052840.5
p.D24A
c.71A>C
1 paper
NM_052840.5
p.A4delFs
c.12delC
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