Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.L14_T20delFs

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.L14_T20delFs
c.42_60del19
Surrounding Variants
1 paper
NM_001365276.2
p.L18L
c.52C>T
1 paper
NM_001365276.2
p.G24fs
c.70_71fs
1 paper
NM_001365276.2
p.G24delFs
c.70delC
1 paper
NM_001365276.2
p.L17V
c.49C>G
1 paper
NM_001365276.2
p.L14H
c.41T>A
1 paper
NM_001365276.2
p.S28T
c.82T>A
1 paper
NM_001365276.2
p.V13insFs
c.39dupT
1 paper
NM_001365276.2
p.L14I
c.40C>A
4 papers
NM_001365276.2
p.R29W
c.85C>T
1 paper
NM_001365276.2
p.R29G
c.85C>G
2 papers
NM_001365276.2
p.R29Q
c.86G>A
1 paper
NM_001365276.2
p.S11insFs
c.33dupC
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