Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.R1550H

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.R1550H
c.4649G>A
Surrounding Variants
1 paper
NM_001365276.2
p.Q1524R
c.4571A>G
3 papers
NM_001365276.2
p.A1521V
c.4562C>T
1 paper
NM_001365276.2
p.V1517del1
c.4549_4550delCAC
3 papers
NM_001365276.2
p.D1512_V1518del0
c.4535_4552del18
1 paper
NM_001365276.2
p.S1503Y
c.4508C>A
1 paper
NM_001365276.2
p.E1498K
c.4492G>A
2 papers
NM_001365276.2
p.T1495I
c.4484C>T
1 paper
NM_001365276.2
p.V1485M
c.4453G>A
7 papers
NM_001365276.2
p.V1482M
c.4444G>A
1 paper
NM_001365276.2
p.T1465insFs
c.4395dupC
1 paper
NM_001365276.2
p.P1564insFs
c.4691_4692ins4
1 paper
NM_001365276.2
p.T1569fs
c.4705_4706fs
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