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.C239R

c.715T>C

Surrounding Variants

3 papers

NM_178014.4

p.C239S

c.715T>A

2 papers

NM_178014.4

p.C239S

c.716G>C

4 papers

NM_178014.4

p.C239F

c.716G>T

1 paper

NM_178014.4

p.C239W

c.717C>G

1 paper

NM_178014.4

p.T238A

c.712A>G

3 papers

NM_178014.4

p.L240I

c.718C>A

2 papers

NM_178014.4

p.R241H

c.722G>A

1 paper

NM_178014.4

p.G235S

c.703G>A

1 paper

NM_178014.4

p.G235C

c.703G>T

1 paper

NM_178014.4

p.P243L

c.728C>T

1 paper

NM_178014.4

p.S234N

c.701G>A

1 paper

NM_178014.4

p.S234G

c.700A>G