Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.P2619L

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.P2619L
c.7856C>T
Surrounding Variants
3 papers
NM_001365276.2
p.E2609Splc
c.7826-1G>C
1 paper
NM_001365276.2
p.E2609Splc
c.7826-4C>T
1 paper
NM_001365276.2
p.M2636V
c.7906A>G
1 paper
NM_001365276.2
p.T2649M
c.7946C>T
1 paper
NM_001365276.2
p.E2652K
c.7954G>A
1 paper
NM_001365276.2
p.F2658Y
c.7973T>A
8 papers
NM_001365276.2
p.R2704H
c.8111G>A
2 papers
NM_001365276.2
p.I2711T
c.8132T>C
1 paper
NM_001365276.2
p.T2714A
c.8140A>G
1 paper
NM_001365276.2
p.P2723L
c.8168C>T
4 papers
NM_001365276.2
p.P2731R
c.8192C>G
1 paper
NM_001365276.2
p.S2751L
c.8252C>T
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