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.A314V

c.941C>T

Surrounding Variants

1 paper

NM_178014.4

p.A314S

c.940G>T

1 paper

NM_178014.4

p.T312I

c.935C>T

1 paper

NM_178014.4

p.V313_F317del5

c.937_950del15

2 papers

NM_178014.4

p.V316A

c.947T>C

2 papers

NM_178014.4

p.R318C

c.952C>T

1 paper

NM_178014.4

p.G319insFs

c.956_957insA

5 papers

NM_178014.4

p.R309G

c.925C>G

1 paper

NM_178014.4

p.R309*

c.925C>T

1 paper

NM_178014.4

p.R320Q

c.959G>A

1 paper

NM_178014.4

p.G308S

c.922G>A

1 paper

NM_178014.4

p.M321L

c.961A>C

2 papers

NM_178014.4

p.M321V

c.961A>G