Varaico: Literature-Extracted Genetic Variants

Gene:BTC
Variant:p.L44F

BTC

35 papers

RefSeq Summary

This gene encodes a member of the epidermal growth factor (EGF) family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is ...

Gene Aliases

HGNC Name

betacellulin

HGNC Alias Name

probetacellulin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001729.4
p.L44F
c.130C>T
Surrounding Variants
1 paper
NM_001729.4
p.L44P
c.131T>C
1 paper
NM_001729.4
p.E40E
c.120A>G
1 paper
NM_001729.4
p.N52N
c.156C>T
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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."