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

1 paper

NM_178014.4

p.G141A

c.422G>C

Surrounding Variants

1 paper

NM_178014.4

p.G141E

c.422G>A

1 paper

NM_178014.4

p.G142S

c.424G>A

3 papers

NM_178014.4

p.G140A

c.419G>C

2 papers

NM_178014.4

p.T143fs

c.427_428fs

1 paper

NM_178014.4

p.G146R

c.436G>A

1 paper

NM_178014.4

p.G146R

c.436G>C

1 paper

NM_178014.4

p.M147K

c.440T>A

1 paper

NM_178014.4

p.L135insFs

c.404_405dupTG

1 paper

NM_178014.4

p.G148S

c.442G>A

1 paper

NM_178014.4

p.T149P

c.445A>C

1 paper

NM_178014.4

p.L150F

c.448C>T

2 papers

NM_178014.4

p.G132C

c.394G>T