Varaico: Literature-Extracted Genetic Variants

Gene:CBLN1
Variant:p.P107L

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
Selected Variant
1 paper
NM_004352.4
p.P107L
c.320C>T
Surrounding Variants
1 paper
NM_004352.4
p.S99A
c.295T>G
1 paper
NM_004352.4
p.F116I
c.346T>A
1 paper
NM_004352.4
p.H117D
c.349C>G
1 paper
NM_004352.4
p.H117Q
c.351C>G
1 paper
NM_004352.4
p.H117Q
c.351C>A
1 paper
NM_004352.4
p.V119L
c.355G>T
1 paper
NM_004352.4
p.V119L
c.355G>C
1 paper
NM_004352.4
p.N95Y
c.283A>T
1 paper
NM_004352.4
p.V89I
c.265G>A
1 paper
NM_004352.4
p.Q88R
c.263A>G
1 paper
NM_004352.4
p.D87N
c.259G>A
1 paper
NM_004352.4
p.I83V
c.247A>G
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