Varaico: Literature-Extracted Genetic Variants

Gene:UNC13B
Variant:p.V8Splc

UNC13B

101 papers

RefSeq Summary

This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains ...

Pfam Domains

C2aa 2–99UCSCC2 domain
C1_1aa 478–530UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)
C2aa 600–709UCSCC2 domain
MUNaa 918–1405UCSCMUN domain
C2aa 1438–1548UCSCC2 domain

Gene Aliases

HGNC Name

unc-13 homolog B

HGNC Previous Symbol

UNC13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001371189.2
p.V8Splc
c.22+4A>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."