Varaico: Literature-Extracted Genetic Variants

Gene:CBLN4

CBLN4

16 papers

RefSeq Summary

This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse...

Pfam Domains

C1qaa 72–198UCSCC1q domain

Gene Aliases

HGNC Name

cerebellin 4 precursor

HGNC Previous Symbol

CBLNL1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
1 paper
NM_080617.6
p.M1L
c.1A>T
1 paper
NM_080617.6
p.M1T
c.2T>C
1 paper
NM_080617.6
p.L23P
c.68T>C
1 paper
NM_080617.6
p.A49T
c.145G>A
1 paper
NM_080617.6
p.S63_A66del0
c.188_196del9
1 paper
NM_080617.6
p.E85K
c.253G>A
1 paper
NM_080617.6
p.T90M
c.269C>T
1 paper
NM_080617.6
p.Q97*
c.289C>T
1 paper
NM_080617.6
p.F106fs
c.316_317fs
1 paper
NM_080617.6
p.K128N
c.384A>T
1 paper
NM_080617.6
p.K128N
c.384A>C
1 paper
NM_080617.6
p.S132R
c.394A>C
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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."