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.V175L

c.523G>T

Surrounding Variants

1 paper

NM_178014.4

p.V175L

c.523G>C

1 paper

NM_178014.4

p.V175A

c.524T>C

1 paper

NM_178014.4

p.S176C

c.527C>G

1 paper

NM_178014.4

p.S176F

c.527C>T

1 paper

NM_178014.4

p.P173L

c.518C>T

4 papers

NM_178014.4

p.P173A

c.517C>G

1 paper

NM_178014.4

p.T178A

c.532A>G

1 paper

NM_178014.4

p.T178S

c.532A>T

2 papers

NM_178014.4

p.S172P

c.514T>C

2 papers

NM_178014.4

p.S172A

c.514T>G

3 papers

NM_178014.4

p.T178S

c.533C>G

1 paper

NM_178014.4

p.T178I

c.533C>T