Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.L1753P

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.L1753P
c.5258T>C
Surrounding Variants
1 paper
NM_001365276.2
p.T1729I
c.5186C>T
1 paper
NM_001365276.2
p.T1727_V1728insTG
c.5179_5183ins6
1 paper
NM_001365276.2
p.F1704delFs
c.5111_5112delAA
1 paper
NM_001365276.2
p.F1704fs
c.5110_5111fs
1 paper
NM_001365276.2
p.R1691C
c.5071C>T
1 paper
NM_001365276.2
p.P1687delFs
c.5059_5060delGG
1 paper
NM_001365276.2
p.A1669S
c.5005G>T
1 paper
NM_001365276.2
p.R1666Q
c.4997G>A
1 paper
NM_001365276.2
p.R1666*
c.4996C>T
1 paper
NM_001365276.2
p.R1762W
c.5284C>T
1 paper
NM_001365276.2
p.D1767_T1768insT
c.5299_5303ins3
1 paper
NM_001365276.2
p.R1777H
c.5330G>A
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