Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.P2096A

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.P2096A
c.6286C>G
Surrounding Variants
1 paper
NM_001365276.2
p.P2096P
c.6288G>A
1 paper
NM_001365276.2
p.G2105E
c.6314G>A
1 paper
NM_001365276.2
p.V2117_P2118insGT
c.6349_6353ins6
1 paper
NM_001365276.2
p.T2116_V2117del2
c.6346_6350del6
1 paper
NM_001365276.2
p.D2123N
c.6367G>A
5 papers
NM_001365276.2
p.V2127M
c.6379G>A
1 paper
NM_001365276.2
p.Q2128*
c.6382C>T
1 paper
NM_001365276.2
p.D2131N
c.6391G>A
1 paper
NM_001365276.2
p.S2146I
c.6437G>T
1 paper
NM_001365276.2
p.R2157L
c.6470G>T
1 paper
NM_001365276.2
p.K2160*
c.6478A>T
1 paper
NM_001365276.2
p.K2160M
c.6479A>T
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