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

1 paper

NM_001365276.2

p.L697P

c.2090T>C

Surrounding Variants

1 paper

NM_001365276.2

p.R695W

c.2083C>T

1 paper

NM_001365276.2

p.V706fs

c.2116_2117fs

1 paper

NM_001365276.2

p.V706insFs

c.2117_2118insGT

2 papers

NM_001365276.2

p.V706insFs

c.2116_2117dupGT

2 papers

NM_001365276.2

p.V706fs

c.2116_2117fs

2 papers

NM_001365276.2

p.V706delFs

c.2116_2117delAC

3 papers

NM_001365276.2

p.E707*

c.2119G>T

1 paper

NM_001365276.2

p.E682K

c.2044G>A

1 paper

NM_001365276.2

p.G679A

c.2036G>C

10 papers

NM_001365276.2

p.D677G

c.2030A>G

1 paper

NM_001365276.2

p.D677Y

c.2029G>T

1 paper

NM_001365276.2

p.D722_C723insC

c.2164_2168ins3