Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.R504H

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
3 papers
NM_001365276.2
p.R504H
c.1511G>A
Surrounding Variants
1 paper
NM_001365276.2
p.R506C
c.1516C>T
1 paper
NM_001365276.2
p.R502C
c.1504C>T
1 paper
NM_001365276.2
p.D500Y
c.1498G>T
4 papers
NM_001365276.2
p.R511H
c.1532G>A
1 paper
NM_001365276.2
p.R495R
c.1485C>T
1 paper
NM_001365276.2
p.N515S
c.1544A>G
1 paper
NM_001365276.2
p.C492C
c.1476C>T
1 paper
NM_001365276.2
p.P485insFs
c.1455dupG
1 paper
NM_001365276.2
p.P485L
c.1454C>T
3 papers
NM_001365276.2
p.W484Fs
c.1451_1452delinsCFs
1 paper
NM_001365276.2
p.W484insFs
c.1450dupT
2 papers
NM_001365276.2
p.W484S
c.1451G>C
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