Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.Q317*

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.Q317*
c.949C>T
Surrounding Variants
1 paper
NM_001365276.2
p.R318W
c.952C>T
1 paper
NM_001365276.2
p.P312S
c.934C>T
1 paper
NM_001365276.2
p.S310S
c.930C>T
4 papers
NM_001365276.2
p.V308insFs
c.923dupT
1 paper
NM_001365276.2
p.R325delFs
c.974delC
2 papers
NM_001365276.2
p.G307insFs
c.920_921insT
1 paper
NM_001365276.2
p.G307R
c.919G>A
1 paper
NM_001365276.2
p.E304K
c.910G>A
1 paper
NM_001365276.2
p.G331A
c.992G>C
4 papers
NM_001365276.2
p.T302A
c.904A>G
2 papers
NM_001365276.2
p.Y301delFs
c.903delG
1 paper
NM_001365276.2
p.Y301*
c.903C>G
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