Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.G455D

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.G455D
c.1364G>A
Surrounding Variants
1 paper
NM_001365276.2
p.N447D
c.1339A>G
1 paper
NM_001365276.2
p.R444H
c.1331G>A
1 paper
NM_001365276.2
p.G468G
c.1404G>C
1 paper
NM_001365276.2
p.R473L
c.1418G>T
1 paper
NM_001365276.2
p.P436R
c.1307C>G
1 paper
NM_001365276.2
p.P436S
c.1306C>T
2 papers
NM_001365276.2
p.R475C
c.1423C>T
1 paper
NM_001365276.2
p.R480L
c.1439G>T
1 paper
NM_001365276.2
p.T428I
c.1283C>T
1 paper
NM_001365276.2
p.G427E
c.1280G>A
1 paper
NM_001365276.2
p.C483C
c.1449T>C
1 paper
NM_001365276.2
p.Y425_T426delFs
c.1273_1277del5
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