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.E108K

c.322G>A

Surrounding Variants

1 paper

NM_178014.4

p.T107K

c.320C>A

3 papers

NM_178014.4

p.T107P

c.319A>C

2 papers

NM_178014.4

p.Y106*

c.318C>A

2 papers

NM_178014.4

p.Y106*

c.318C>G

1 paper

NM_178014.4

p.H105_Y106delFs

c.313_317del5

1 paper

NM_178014.4

p.V113I

c.337G>A

1 paper

NM_178014.4

p.W101L

c.302G>T

1 paper

NM_178014.4

p.N100Y

c.298A>T

1 paper

NM_178014.4

p.N99D

c.295A>G

3 papers

NM_178014.4

p.L117P

c.350T>C

2 papers

NM_178014.4

p.G98S

c.292G>A

6 papers

NM_178014.4

p.G98R

c.292G>C