Varaico: Literature-Extracted Genetic Variants

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 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

3 papers

NM_001365276.2

p.G4050G

c.12150C>G

Surrounding Variants

3 papers

NM_019105.8

p.R4050R

c.12150C>G

1 paper

NM_001365276.2

p.E4053*

c.12157G>T

1 paper

NM_032470.4

p.R483W

c.1447C>T

1 paper

NM_032470.4

p.R483P

c.1448G>C

1 paper

NM_032470.4

p.R483Q

c.1448G>A

1 paper

NM_032470.4

p.R483Fs

c.1448_1449delinsCFs

1 paper

NM_001365276.2

p.T4045I

c.12134C>T

1 paper

NM_001365276.2

p.N4057I

c.12170A>T

15 papers

NM_019105.8

p.C4058W

c.12174C>G

NM_001365276.2

p.C4060W

c.12180C>G

1 paper

NM_001365276.2

p.M4062T

c.12185T>C

2 papers

NM_032470.4

p.P454S

c.1360C>T

1 paper

NM_001365276.2

p.F4072F

c.12216C>T