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

2 papers

NM_178014.4

p.M330I

c.990G>C

Surrounding Variants

2 papers

NM_178014.4

p.M330I

c.990G>A

2 papers

NM_178014.4

p.M330I

c.990G>T

1 paper

NM_178014.4

p.Q329R

c.986A>G

1 paper

NM_178014.4

p.N332D

c.994A>G

1 paper

NM_178014.4

p.N332N

c.996C>T

1 paper

NM_178014.4

p.D327G

c.980A>G

1 paper

NM_178014.4

p.V326F

c.976G>T

1 paper

NM_178014.4

p.N337D

c.1009A>G

1 paper

NM_178014.4

p.M323R

c.968T>G

1 paper

NM_178014.4

p.M323V

c.967A>G

1 paper

NM_178014.4

p.S338T

c.1013G>C

1 paper

NM_178014.4

p.S339R

c.1015A>C