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.G402D

c.1205G>A

Surrounding Variants

1 paper

NM_178014.4

p.G402V

c.1205G>T

1 paper

NM_178014.4

p.M403V

c.1207A>G

1 paper

NM_178014.4

p.M403fs

c.1207_1208fs

1 paper

NM_178014.4

p.E401_G402insFs

c.1203_1204insCT

19 papers

NM_178014.4

p.E401K

c.1201G>A

1 paper

NM_178014.4

p.G400R

c.1198G>C

1 paper

NM_178014.4

p.E405K

c.1213G>A

1 paper

NM_178014.4

p.Y398*

c.1194C>A

1 paper

NM_178014.4

p.Y398*

c.1194C>G

1 paper

NM_178014.4

p.Y398C

c.1193A>G

1 paper

NM_178014.4

p.W397G

c.1189T>G

2 papers

NM_178014.4

p.H396Y

c.1186C>T