Varaico: Literature-Extracted Genetic Variants

Gene:TEKT1
Variant:p.V332I

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
2 papers
NM_053285.2
p.V332I
c.994G>A
Surrounding Variants
1 paper
NM_053285.2
p.V332V
c.996C>T
1 paper
NM_053285.2
p.A333T
c.997G>A
1 paper
NM_053285.2
p.T315T
c.945G>A
1 paper
NM_053285.2
p.V348V
c.1044C>T
2 papers
NM_053285.2
p.K311N
c.933G>T
1 paper
NM_053285.2
p.K311N
c.933G>C
1 paper
NM_053285.2
p.E361fs
c.1081_1082fs
1 paper
NM_053285.2
p.E361delFs
c.1082_1083delCT
1 paper
NM_053285.2
p.I385V
c.1153A>G
1 paper
NM_053285.2
p.E387*
c.1159G>T
1 paper
NM_053285.2
p.V388M
c.1162G>A
2 papers
NM_053285.2
p.V407L
c.1219G>C
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