Varaico: Literature-Extracted Genetic Variants

Gene:TEKT2
Variant:p.A229V

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
5 papers
NM_014466.3
p.A229V
c.686C>T
Surrounding Variants
1 paper
NM_014466.3
p.A229A
c.687G>A
1 paper
NM_014466.3
p.R228Q
c.683G>A
1 paper
NM_014466.3
p.Q217K
c.649C>A
1 paper
NM_014466.3
p.L215F
c.643C>T
1 paper
NM_014466.3
p.V208fs
c.622_623fs
1 paper
NM_014466.3
p.V208_G211delFs
c.623_632del10
1 paper
NM_014466.3
p.R207H
c.620G>A
1 paper
NM_014466.3
p.L194H
c.581T>A
1 paper
NM_014466.3
p.E249_T250Splc
c.748-1G>T
1 paper
NM_014466.3
p.E181_L183delins
c.543_547delinsTTGAT
1 paper
NM_014466.3
p.S174S
c.522C>T
1 paper
NM_014466.3
p.K267N
c.801G>C
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