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.E552fs

c.1654_1655fs

Surrounding Variants

1 paper

NM_001365276.2

p.E552fs

c.1654_1655fs

3 papers

NM_001365276.2

p.S550_G551delFs

c.1650_1651delCT

2 papers

NM_001365276.2

p.G561G

c.1683G>T

3 papers

NM_001365276.2

p.G562V

c.1685G>T

1 paper

NM_001365276.2

p.G565fs

c.1693_1694fs

1 paper

NM_001365276.2

p.C569Y

c.1706G>A

1 paper

NM_001365276.2

p.R573Q

c.1718G>A

1 paper

NM_001365276.2

p.G530R

c.1588G>A

1 paper

NM_001365276.2

p.C576insFs

c.1727_1728insTG

1 paper

NM_001365276.2

p.P529S

c.1585C>T

1 paper

NM_001365276.2

p.C576fs

c.1726_1727fs

1 paper

NM_001365276.2

p.R573_C576del4

c.1717_1727del12