Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.L145F

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.L145F
c.433C>T
Surrounding Variants
1 paper
NM_001365276.2
p.H146L
c.437A>T
1 paper
NM_001365276.2
p.V148A
c.443T>C
1 paper
NM_001365276.2
p.R153H
c.458G>A
1 paper
NM_001365276.2
p.G135Splc
c.404-1G>T
1 paper
NM_001365276.2
p.G163R
c.487G>C
1 paper
NM_001365276.2
p.G163A
c.488G>C
2 papers
NM_001365276.2
p.G161_G164del0
c.483_491del9
3 papers
NM_001365276.2
p.A173T
c.517G>A
1 paper
NM_001365276.2
p.E174fs
c.520_521fs
1 paper
NM_001365276.2
p.S179F
c.536C>T
1 paper
NM_001365276.2
p.S186Y
c.557C>A
1 paper
NM_001365276.2
p.P188L
c.563C>T
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