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

9 papers

NM_178014.4

p.Q43P

c.128A>C

Surrounding Variants

1 paper

NM_178014.4

p.Q43H

c.129G>C

1 paper

NM_178014.4

p.Q43H

c.129G>T

1 paper

NM_178014.4

p.L42V

c.124C>G

2 papers

NM_178014.4

p.L44L

c.132G>C

4 papers

NM_178014.4

p.D45Y

c.133G>T

1 paper

NM_178014.4

p.D41A

c.122A>C

1 paper

NM_178014.4

p.D45V

c.134A>T

1 paper

NM_178014.4

p.R46G

c.136C>G

1 paper

NM_178014.4

p.R46C

c.136C>T

1 paper

NM_178014.4

p.I47V

c.139A>G

1 paper

NM_178014.4

p.D39G

c.116A>G

1 paper

NM_178014.4

p.G38R

c.112G>A