Varaico: Literature-Extracted Genetic Variants

Gene:TUBE1
Variant:p.T233S

TUBE1

39 papers

RefSeq Summary

This gene encodes a member of the tubulin superfamily. This protein localizes to the centriolar sub-distal appendages that are associated with the older of the two centrioles after centrosome duplicat...

Pfam Domains

Tubulinaa 3–219UCSCTubulin/FtsZ family, GTPase domain
Tubulin_Caa 294–414UCSCTubulin C-terminal domain

Gene Aliases

HGNC Name

tubulin epsilon 1

HGNC Alias Symbols

dJ142L7.2; FLJ22589

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016262.5
p.T233S
c.698C>G
Surrounding Variants
1 paper
NM_016262.5
p.P236S
c.706C>T
1 paper
NM_016262.5
p.P236L
c.707C>T
1 paper
NM_016262.5
p.K237E
c.709A>G
2 papers
NM_016262.5
p.S238C
c.712A>T
2 papers
NM_016262.5
p.L239R
c.716T>G
1 paper
NM_016262.5
p.V225fs
c.673_674fs
1 paper
NM_016262.5
p.V225insFs
c.673dupG
1 paper
NM_016262.5
p.H251Y
c.751C>T
1 paper
NM_016262.5
p.I261delFs
c.781delT
1 paper
NM_016262.5
p.I261fs
c.781_782fs
1 paper
NM_016262.5
p.H202R
c.605A>G
1 paper
NM_016262.5
p.D183A
c.548A>C
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