Varaico: Literature-Extracted Genetic Variants

Gene:BTC
Variant:p.T90M

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
2 papers
NM_001729.4
p.T90M
c.269C>T
Surrounding Variants
1 paper
NM_001729.4
p.Q89R
c.266A>G
1 paper
NM_001729.4
p.R68G
c.202A>G
1 paper
NM_001729.4
p.F66C
c.197T>G
1 paper
NM_001729.4
p.G101insFs
c.302_303insCG
1 paper
NM_001729.4
p.R106S
c.318A>T
1 paper
NM_001729.4
p.R106S
c.318A>C
1 paper
NM_001729.4
p.Y111H
c.331T>C
9 papers
NM_001729.4
p.L124M
c.370T>A
1 paper
NM_001729.4
p.G137S
c.409G>A
1 paper
NM_001729.4
p.E159K
c.475G>A
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