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.H307Y

c.919C>T

Surrounding Variants

2 papers

NM_178014.4

p.R306H

c.917G>A

2 papers

NM_178014.4

p.R306C

c.916C>T

1 paper

NM_178014.4

p.G308S

c.922G>A

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.A302V

c.905C>T

1 paper

NM_178014.4

p.T312I

c.935C>T

1 paper

NM_178014.4

p.V313_F317del5

c.937_950del15

4 papers

NM_178014.4

p.M300I

c.900G>A

4 papers

NM_178014.4

p.M300I

c.900G>C

4 papers

NM_178014.4

p.M300I

c.900G>T

1 paper

NM_178014.4

p.A314S

c.940G>T