Varaico: Literature-Extracted Genetic Variants

Gene:TEKT2
Variant:p.E97delFs

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.E97delFs
c.290delA
Surrounding Variants
1 paper
NM_014466.3
p.E97fs
c.289_290fs
1 paper
NM_014466.3
p.R124Q
c.371G>A
1 paper
NM_014466.3
p.V128E
c.383T>A
2 papers
NM_014466.3
p.E136K
c.406G>A
1 paper
NM_014466.3
p.E140Q
c.418G>C
1 paper
NM_014466.3
p.E145K
c.433G>A
1 paper
NM_014466.3
p.A146V
c.437C>T
1 paper
NM_014466.3
p.D90N
c.268G>A
1 paper
NM_014466.3
p.A87D
c.260C>A
1 paper
NM_014466.3
p.L78L
c.234G>T
1 paper
NM_014466.3
p.E76G
c.227A>G
1 paper
NM_014466.3
p.E66*
c.196G>T
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