Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.V2816delFs

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.V2816delFs
c.8446delC
Surrounding Variants
1 paper
NM_001365276.2
p.E2809K
c.8425G>A
1 paper
NM_001365276.2
p.R2798C
c.8392C>T
1 paper
NM_001365276.2
p.P2796P
c.8388C>T
1 paper
NM_001365276.2
p.D2774D
c.8322C>T
1 paper
NM_001365276.2
p.Q2769R
c.8306A>G
1 paper
NM_001365276.2
p.S2765F
c.8294C>T
1 paper
NM_001365276.2
p.S2765Y
c.8294C>A
1 paper
NM_001365276.2
p.Q2760*
c.8278C>T
1 paper
NM_001365276.2
p.S2751L
c.8252C>T
4 papers
NM_001365276.2
p.P2731R
c.8192C>G
1 paper
NM_001365276.2
p.P2723L
c.8168C>T
1 paper
NM_001365276.2
p.T2714A
c.8140A>G
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