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

8 papers

NM_019105.8

p.S4175N

c.12524G>A

NM_001365276.2

p.S4177N

c.12530G>A

Surrounding Variants

8 papers

NM_019105.8

p.D4172N

c.12514G>A

NM_001365276.2

p.D4174N

c.12520G>A

1 paper

NM_001365276.2

p.R4173Q

c.12518G>A

11 papers

NM_001365276.2

p.D4172N

c.12514G>A

1 paper

NM_019105.8

p.R4185*

c.12553C>T

1 paper

NM_019105.8

p.G4155Splc

c.12464-1G>C

5 papers

NM_019105.8

p.G4155Splc

c.12463+2T>C

NM_001365276.2

p.G4157Splc

c.12469+2T>C

1 paper

NM_019105.8

p.Y4143*

c.12429C>G

1 paper

NM_019105.8

p.Y4143*

c.12429C>A

1 paper

NM_001365276.2

p.G4125R

c.12373G>A

1 paper

NM_019105.8

p.T4078_D4079delFs

c.12234_12237del4

1 paper

NM_019105.8

p.D4079fs

c.12235_12236fs

11 papers

NM_019105.8

p.R4073H

c.12218G>A

NM_001365276.2

p.R4075H

c.12224G>A