Varaico: Literature-Extracted Genetic Variants

Gene:CBLN3
Variant:p.R184H

CBLN3

17 papers

RefSeq Summary

Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypica...

Pfam Domains

C1qaa 73–202UCSCC1q domain

Gene Aliases

HGNC Name

cerebellin 3 precursor

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001039771.3
p.R184H
c.551G>A
Surrounding Variants
1 paper
NM_001039771.3
p.R184C
c.550C>T
1 paper
NM_001039771.3
p.F154delFs
c.462delA
1 paper
NM_001039771.3
p.F154fs
c.460_461fs
1 paper
NM_001039771.3
p.R121Q
c.362G>A
1 paper
NM_001039771.3
p.A112V
c.335C>T
1 paper
NM_001039771.3
p.G107S
c.319G>A
1 paper
NM_001039771.3
p.E105E
c.315G>A
1 paper
NM_001039771.3
p.S79C
c.235A>T
1 paper
NM_001039771.3
p.A76A
c.228G>T
1 paper
NM_001039771.3
p.P69fs
c.205_206fs
1 paper
NM_001039771.3
p.P69delFs
c.206delG
1 paper
NM_001039771.3
p.G58R
c.172G>C
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