Varaico: Literature-Extracted Genetic Variants

Gene:TECTB
Variant:p.L201*

TECTB

39 papers

RefSeq Summary

This gene encodes a non-collagenous glycoprotein component of the tectorial membrane, which covers the auditory hair cells in the cochlea of the inner ear. A similar protein in mouse functions in low-...

Pfam Domains

Zona_pellucidaaa 147–281UCSCZP-C domain

Gene Aliases

HGNC Name

tectorin beta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_058222.3
p.L201*
c.602T>A
Surrounding Variants
1 paper
NM_058222.3
p.N202K
c.606C>A
1 paper
NM_058222.3
p.N202K
c.606C>G
2 papers
NM_058222.3
p.P208R
c.623C>G
1 paper
NM_058222.3
p.S209fs
c.625_626fs
1 paper
NM_058222.3
p.L184M
c.550C>A
1 paper
NM_058222.3
p.K169T
c.506A>C
1 paper
NM_058222.3
p.K168T
c.503A>C
1 paper
NM_058222.3
p.C225Y
c.674G>A
1 paper
NM_058222.3
p.T243N
c.728C>A
1 paper
NM_058222.3
p.I254T
c.761T>C
1 paper
NM_058222.3
p.S258F
c.773C>T
1 paper
NM_058222.3
p.V260E
c.779T>A
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