Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.P2010P

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
2 papers
NM_001365276.2
p.P2010P
c.6030C>T
Surrounding Variants
1 paper
NM_001365276.2
p.R2022G
c.6064A>G
9 papers
NM_001365276.2
p.D2025V
c.6074A>T
1 paper
NM_001365276.2
p.P1985delFs
c.5955delG
1 paper
NM_001365276.2
p.P1985fs
c.5953_5954fs
1 paper
NM_001365276.2
p.E1976V
c.5927A>T
1 paper
NM_001365276.2
p.E1970K
c.5908G>A
1 paper
NM_001365276.2
p.N2054Y
c.6160A>T
1 paper
NM_001365276.2
p.R1931R
c.5793G>A
1 paper
NM_001365276.2
p.M1924T
c.5771T>C
2 papers
NM_001365276.2
p.G1906E
c.5717G>A
1 paper
NM_001365276.2
p.G1906R
c.5716G>C
1 paper
NM_001365276.2
p.G1906R
c.5716G>A
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