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_001293213.2

p.E123_V124Splc

c.369+2C>T

Surrounding Variants

1 paper

NM_178014.4

p.E123A

c.368A>C

1 paper

NM_178014.4

p.E123K

c.367G>A

1 paper

NM_178014.4

p.E123Q

c.367G>C

1 paper

NM_178014.4

p.S126N

c.377G>A

2 papers

NM_178014.4

p.K122*

c.364A>T

2 papers

NM_178014.4

p.R121W

c.361C>T

1 paper

NM_178014.4

p.D118H

c.352G>C

1 paper

NM_178014.4

p.Q131_G132insFs

c.393_394insG

3 papers

NM_178014.4

p.L117P

c.350T>C

2 papers

NM_178014.4

p.G132C

c.394G>T

1 paper

NM_178014.4

p.L135insFs

c.404_405dupTG

1 paper

NM_178014.4

p.V113I

c.337G>A