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.M257V

c.769A>G

Surrounding Variants

2 papers

NM_178014.4

p.N256S

c.767A>G

3 papers

NM_178014.4

p.V255I

c.763G>A

1 paper

NM_178014.4

p.F260insFs

c.779dupT

3 papers

NM_178014.4

p.F260S

c.779T>C

1 paper

NM_178014.4

p.L253*

c.758T>A

1 paper

NM_178014.4

p.K252R

c.755A>G

1 paper

NM_178014.4

p.K252Q

c.754A>C

1 paper

NM_178014.4

p.R262C

c.784C>T

4 papers

NM_178014.4

p.R262H

c.785G>A

2 papers

NM_178014.4

p.R251H

c.752G>A

1 paper

NM_178014.4

p.R251L

c.752G>T

1 paper

NM_178014.4

p.L263I

c.787C>A