Varaico: Literature-Extracted Genetic Variants

Gene:CELF4
Variant:p.P219T

CELF4

66 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 56–125UCSCRNA recognition motif
RRM_1aa 154–222UCSCRNA recognition motif
RRM_1aa 423–473UCSCRNA recognition motif

Gene Aliases

HGNC Name

CUGBP Elav-like family member 4

HGNC Previous Symbol

BRUNOL4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020180.4
p.P219T
c.655C>A
Surrounding Variants
1 paper
NM_020180.4
p.S215I
c.644G>T
1 paper
NM_020180.4
p.E204*
c.610G>T
3 papers
NM_020180.4
p.E204Q
c.610G>C
2 papers
NM_020180.4
p.A203P
c.607G>C
1 paper
NM_020180.4
p.C194*
c.582C>A
1 paper
NM_020180.4
p.G193V
c.578G>T
1 paper
NM_020180.4
p.P219_G220Splc
c.658-49G>A
1 paper
NM_020180.4
p.G193Splc
c.577+2T>G
1 paper
NM_020180.4
p.G186A
c.557G>C
1 paper
NM_020180.4
p.S223P
c.667T>C
1 paper
NM_020180.4
p.S223F
c.668C>T
2 papers
NM_020180.4
p.E165*
c.493G>T
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