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

4 papers

NM_178014.4

p.M300I

c.900G>C

Surrounding Variants

4 papers

NM_178014.4

p.M300I

c.900G>A

4 papers

NM_178014.4

p.M300I

c.900G>T

1 paper

NM_178014.4

p.M299I

c.897G>A

1 paper

NM_178014.4

p.M299I

c.897G>C

1 paper

NM_178014.4

p.M299I

c.897G>T

12 papers

NM_178014.4

p.M299V

c.895A>G

1 paper

NM_178014.4

p.A302V

c.905C>T

1 paper

NM_178014.4

p.N298S

c.893A>G

1 paper

NM_178014.4

p.A296S

c.886G>T

2 papers

NM_178014.4

p.R306C

c.916C>T

2 papers

NM_178014.4

p.R306H

c.917G>A

1 paper

NM_178014.4

p.D295N

c.883G>A