Varaico: Literature-Extracted Genetic Variants

Gene:CBLN1

CBLN1

49 papers

RefSeq Summary

This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give ri...

Pfam Domains

C1qaa 63–190UCSCC1q domain

Gene Aliases

HGNC Name

cerebellin 1 precursor

Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
1 paper
NM_004352.4
p.M1T
c.2T>C
1 paper
NM_004352.4
p.M1insFs
c.2dupT
1 paper
NM_004352.4
p.G3D
c.8G>A
1 paper
NM_004352.4
p.V4L
c.10G>C
1 paper
NM_004352.4
p.L8P
c.23T>C
1 paper
NM_004352.4
p.T25A
c.73A>G
1 paper
NM_004352.4
p.P27T
c.79C>A
1 paper
NM_004352.4
p.E31Q
c.91G>C
1 paper
NM_004352.4
p.L35Q
c.104T>A
1 paper
NM_004352.4
p.T47M
c.140C>T
1 paper
NM_004352.4
p.A50A
c.150C>T
1 paper
NM_004352.4
p.V55G
c.164T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."