Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.R1255G

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.R1255G
c.3763C>G
Surrounding Variants
1 paper
NM_001365276.2
p.R1255insFs
c.3763dupC
3 papers
NM_001365276.2
p.R1255H
c.3764G>A
1 paper
NM_001365276.2
p.R1255delFs
c.3763delG
2 papers
NM_001365276.2
p.R1255fs
c.3763_3764fs
2 papers
NM_001365276.2
p.G1265R
c.3793G>C
2 papers
NM_001365276.2
p.G1265R
c.3793G>A
1 paper
NM_001365276.2
p.T1273_L1277del5
c.3817_3830del15
1 paper
NM_001365276.2
p.A1284fs
c.3850_3851fs
1 paper
NM_001365276.2
p.A1284delFs
c.3850delC
1 paper
NM_001365276.2
p.G1286C
c.3856G>T
3 papers
NM_001365276.2
p.G1331R
c.3991G>C
3 papers
NM_001365276.2
p.G1331R
c.3991G>A
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