Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.E291del1

TNXB

441 papers

RefSeq Summary

This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought ...

Pfam Domains

EGF_TENaa 189–414UCSCTeneurin EGF domain
EGF_TENaa 189–414UCSCTeneurin EGF domain
EGF_TENaa 406–631UCSCTeneurin EGF domain
EGF_TENaa 406–631UCSCTeneurin EGF domain
EGF_TENaa 623–769UCSCTeneurin EGF domain
fn3aa 750–839UCSCFibronectin type III domain

Gene Aliases

HGNC Name

tenascin XB

HGNC Previous Symbols

TNXB1; TNXB2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001365276.2
p.E291del1
c.871_873delCTC
Surrounding Variants
1 paper
NM_001365276.2
p.R289P
c.866G>C
1 paper
NM_001365276.2
p.Q286fs
c.856_857fs
1 paper
NM_001365276.2
p.Q286delFs
c.857delT
1 paper
NM_001365276.2
p.C297W
c.891T>G
1 paper
NM_001365276.2
p.Q286insFs
c.856_857insG
1 paper
NM_001365276.2
p.P299fs
c.895_896fs
1 paper
NM_001365276.2
p.G283C
c.847G>T
1 paper
NM_001365276.2
p.Y301*
c.903C>G
1 paper
NM_001365276.2
p.Y301*
c.903C>A
4 papers
NM_001365276.2
p.T302A
c.904A>G
2 papers
NM_001365276.2
p.Y301delFs
c.903delG
2 papers
NM_001365276.2
p.P281L
c.842C>T
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