Varaico: Literature-Extracted Genetic Variants

Gene:TNXB
Variant:p.V353A

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.V353A
c.1058T>C
Surrounding Variants
1 paper
NM_001365276.2
p.G355D
c.1064G>A
2 papers
NM_001365276.2
p.R356C
c.1066C>T
1 paper
NM_001365276.2
p.R356P
c.1067G>C
1 paper
NM_001365276.2
p.C357Y
c.1070G>A
1 paper
NM_001365276.2
p.P361S
c.1081C>T
1 paper
NM_001365276.2
p.P361L
c.1082C>T
1 paper
NM_001365276.2
p.D345V
c.1034A>T
1 paper
NM_001365276.2
p.G362A
c.1085G>C
1 paper
NM_001365276.2
p.T364K
c.1091C>A
1 paper
NM_001365276.2
p.R340W
c.1018C>T
3 papers
NM_001365276.2
p.Y332_T339del8
c.994_1016del24
1 paper
NM_001365276.2
p.D336E
c.1008C>G
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