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

2 papers

NM_001365276.2

p.K69*

c.205A>T

Surrounding Variants

1 paper

NM_001365276.2

p.K69E

c.205A>G

1 paper

NM_001365276.2

p.Q70*

c.208C>T

2 papers

NM_001365276.2

p.V71L

c.211G>T

2 papers

NM_001365276.2

p.V71L

c.211G>C

2 papers

NM_001365276.2

p.F73S

c.218T>C

1 paper

NM_001365276.2

p.F73F

c.219C>T

1 paper

NM_001365276.2

p.T74T

c.222C>T

2 papers

NM_001365276.2

p.H62L

c.185A>T

1 paper

NM_001365276.2

p.I77T

c.230T>C

1 paper

NM_001365276.2

p.L79M

c.235C>A

2 papers

NM_001365276.2

p.Q58L

c.173A>T

1 paper

NM_001365276.2

p.G49delFs

c.145delC