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

3 papers

NM_178014.4

p.T372A

c.1114A>G

NM_001293213.2

p.T170A

c.508A>G

Surrounding Variants

2 papers

NM_178014.4

p.N370S

c.1109A>G

1 paper

NM_178014.4

p.G369V

c.1106G>T

1 paper

NM_178014.4

p.G369S

c.1105G>A

1 paper

NM_178014.4

p.Q375R

c.1124A>G

1 paper

NM_178014.4

p.E376G

c.1127A>G

2 papers

NM_178014.4

p.F367L

c.1101C>A

2 papers

NM_178014.4

p.F367L

c.1101C>G

2 papers

NM_178014.4

p.F367I

c.1099T>A

2 papers

NM_178014.4

p.F367L

c.1099T>C

2 papers

NM_178014.4

p.A364E

c.1091C>A

3 papers

NM_178014.4

p.R380S

c.1138C>A

2 papers

NM_178014.4

p.R380C

c.1138C>T