Varaico: Literature-Extracted Genetic Variants

Gene:TEKT2
Variant:p.V44A

TEKT2

57 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 17–398UCSCTektin family

Gene Aliases

HGNC Name

tektin 2

HGNC Alias Symbol

TEKTB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014466.3
p.V44A
c.131T>C
Surrounding Variants
6 papers
NM_014466.3
p.R46C
c.136C>T
1 paper
NM_014466.3
p.E48K
c.142G>A
1 paper
NM_014466.3
p.Q52E
c.154C>G
1 paper
NM_014466.3
p.P8S
c.22C>T
1 paper
NM_014466.3
p.L4L
c.12G>A
1 paper
NM_014466.3
p.E66*
c.196G>T
1 paper
NM_014466.3
p.E76G
c.227A>G
1 paper
NM_014466.3
p.L78L
c.234G>T
1 paper
NM_014466.3
p.A87D
c.260C>A
1 paper
NM_014466.3
p.D90N
c.268G>A
1 paper
NM_014466.3
p.E97fs
c.289_290fs
1 paper
NM_014466.3
p.E97delFs
c.290delA
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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."