Varaico: Literature-Extracted Genetic Variants

TUBB

382 papers

RefSeq Summary

This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, wi...

Pfam Domains

Tubulinaa 1–140UCSCTubulin/FtsZ family, GTPase domain

Tubulinaa 3–212UCSCTubulin/FtsZ family, GTPase domain

Tubulin_Caa 189–311UCSCTubulin C-terminal domain

Gene Aliases

HGNC Name

tubulin beta class I

HGNC Alias Symbols

OK/SW-cl.56; MGC16435; M40; Tubb5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_178014.4

p.I210T

c.629T>C

Surrounding Variants

2 papers

NM_178014.4

p.I210N

c.629T>A

1 paper

NM_178014.4

p.I210L

c.628A>C

2 papers

NM_178014.4

p.I210V

c.628A>G

1 paper

NM_178014.4

p.D209D

c.627T>C

1 paper

NM_178014.4

p.D209E

c.627T>G

1 paper

NM_178014.4

p.Y208*

c.624T>A

1 paper

NM_178014.4

p.Y208*

c.624T>G

1 paper

NM_178014.4

p.F212L

c.636C>G

1 paper

NM_178014.4

p.Y208fs

c.622_623fs

1 paper

NM_178014.4

p.R213C

c.637C>T

1 paper

NM_178014.4

p.Y208delFs

c.623_624delAT

1 paper

NM_178014.4

p.R213P

c.638G>C