Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.G195delFs

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.G195delFs
c.585delA
Surrounding Variants
1 paper
NM_001365276.2
p.R196fs
c.586_587fs
1 paper
NM_001365276.2
p.C191_N192delFs
c.573_576del4
4 papers
NM_001365276.2
p.V203M
c.607G>A
1 paper
NM_001365276.2
p.P188L
c.563C>T
1 paper
NM_001365276.2
p.C204*
c.612C>A
1 paper
NM_001365276.2
p.S186Y
c.557C>A
1 paper
NM_001365276.2
p.P206S
c.616C>T
1 paper
NM_001365276.2
p.G207R
c.619G>C
1 paper
NM_001365276.2
p.G207S
c.619G>A
1 paper
NM_001365276.2
p.G207_Y208del1
c.621_623delTAG
2 papers
NM_001365276.2
p.P211S
c.631C>T
1 paper
NM_001365276.2
p.S179F
c.536C>T
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