Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.G603D

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.G603D
c.1808G>A
Surrounding Variants
1 paper
NM_001365276.2
p.Q589_C590insFs
c.1767_1768insT
1 paper
NM_001365276.2
p.G586S
c.1756G>A
1 paper
NM_001365276.2
p.C585C
c.1755C>T
1 paper
NM_001365276.2
p.C621_S623del3
c.1861_1868del9
1 paper
NM_001365276.2
p.G582D
c.1745G>A
1 paper
NM_001365276.2
p.R573_C576del4
c.1717_1727del12
1 paper
NM_001365276.2
p.C576fs
c.1726_1727fs
1 paper
NM_001365276.2
p.C576insFs
c.1727_1728insTG
1 paper
NM_001365276.2
p.R573Q
c.1718G>A
1 paper
NM_001365276.2
p.R635H
c.1904G>A
1 paper
NM_001365276.2
p.C569Y
c.1706G>A
1 paper
NM_001365276.2
p.G641S
c.1921G>A
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