Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.P250H

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 189–414UCSCTeneurin EGF domain
EGF_TENaa 406–631UCSCTeneurin 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.P250H
c.749C>A
Surrounding Variants
1 paper
NM_001365276.2
p.S248_C249del0
c.742_747del6
1 paper
NM_001365276.2
p.C249C
c.747C>T
1 paper
NM_001365276.2
p.C249W
c.747C>G
1 paper
NM_001365276.2
p.R251Q
c.752G>A
1 paper
NM_001365276.2
p.R247delFs
c.740delC
1 paper
NM_001365276.2
p.R256W
c.766A>T
1 paper
NM_001365276.2
p.R258C
c.772C>T
1 paper
NM_001365276.2
p.G241insFs
c.722_723insC
1 paper
NM_001365276.2
p.G241S
c.721G>A
2 papers
NM_001365276.2
p.F239Y
c.716T>A
1 paper
NM_001365276.2
p.G261D
c.782G>A
1 paper
NM_001365276.2
p.R258_G261del0
c.772_783del12
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