Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.P1564insFs

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.P1564insFs
c.4691_4692ins4
Surrounding Variants
1 paper
NM_001365276.2
p.T1569fs
c.4705_4706fs
1 paper
NM_001365276.2
p.T1569delFs
c.4706_4707delTG
1 paper
NM_001365276.2
p.A1571D
c.4712C>A
1 paper
NM_001365276.2
p.I1588V
c.4762A>G
1 paper
NM_001365276.2
p.V1608M
c.4822G>A
1 paper
NM_001365276.2
p.I1632M
c.4896C>G
3 papers
NM_001365276.2
p.D1650_G1651del2
c.4948_4952del6
4 papers
NM_001365276.2
p.R1653*
c.4957C>T
1 paper
NM_001365276.2
p.R1654H
c.4961G>A
1 paper
NM_001365276.2
p.A1661_K1662insT
c.4981_4985ins3
1 paper
NM_001365276.2
p.R1550H
c.4649G>A
1 paper
NM_001365276.2
p.Q1524R
c.4571A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."