Varaico: Literature-Extracted Genetic Variants

Gene:TEKT1
Variant:p.L81I

TEKT1

50 papers

RefSeq Summary

This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This g...

Pfam Domains

Tektinaa 16–398UCSCTektin family

Gene Aliases

HGNC Name

tektin 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_053285.2
p.L81I
c.241C>A
Surrounding Variants
1 paper
NM_053285.2
p.D78N
c.232G>A
1 paper
NM_053285.2
p.E68K
c.202G>A
1 paper
NM_053285.2
p.Y94C
c.281A>G
1 paper
NM_053285.2
p.K100R
c.299A>G
1 paper
NM_053285.2
p.K106Q
c.316A>C
1 paper
NM_053285.2
p.R119Splc
c.357-1G>A
1 paper
NM_053285.2
p.G124A
c.371G>C
1 paper
NM_053285.2
p.I146V
c.436A>G
1 paper
NM_053285.2
p.S158S
c.474C>T
1 paper
NM_053285.2
p.R162Splc
c.485+2T>C
1 paper
NM_053285.2
p.A181_T183delins
c.543_547delinsTTGAT
2 papers
NM_053285.2
p.S190L
c.569C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."