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.K216R

c.647A>G

Surrounding Variants

3 papers

NM_178014.4

p.L217R

c.650T>G

1 paper

NM_178014.4

p.L215R

c.644T>G

1 paper

NM_178014.4

p.L215V

c.643C>G

1 paper

NM_178014.4

p.L215L

c.643C>T

1 paper

NM_178014.4

p.T218A

c.652A>G

1 paper

NM_178014.4

p.T219A

c.655A>G

1 paper

NM_178014.4

p.R213R

c.639C>G

1 paper

NM_178014.4

p.R213P

c.638G>C

1 paper

NM_178014.4

p.R213C

c.637C>T

1 paper

NM_178014.4

p.P220T

c.658C>A

1 paper

NM_178014.4

p.F212L

c.636C>G

1 paper

NM_178014.4

p.P220S

c.658C>T