Varaico: Literature-Extracted Genetic Variants

Gene:CELF5
Variant:p.N462S

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
Selected Variant
1 paper
NM_021938.4
p.N462S
c.1385A>G
Surrounding Variants
1 paper
NM_021938.4
p.N462N
c.1386C>T
1 paper
NM_021938.4
p.S453S
c.1359C>T
1 paper
NM_021938.4
p.G444S
c.1330G>A
1 paper
NM_021938.4
p.A379P
c.1135G>C
1 paper
NM_021938.4
p.M369fs
c.1105_1106fs
2 papers
NM_021938.4
p.Q364L
c.1091A>T
1 paper
NM_021938.4
p.Q364*
c.1090C>T
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