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.L273P

c.818T>C

Surrounding Variants

1 paper

NM_178014.4

p.L273F

c.817C>T

6 papers

NM_178014.4

p.T274I

c.821C>T

1 paper

NM_178014.4

p.A271T

c.811G>A

1 paper

NM_178014.4

p.F270C

c.809T>G

1 paper

NM_178014.4

p.F270I

c.808T>A

4 papers

NM_178014.4

p.F270V

c.808T>G

1 paper

NM_178014.4

p.G269D

c.806G>A

1 paper

NM_178014.4

p.G269C

c.805G>T

1 paper

NM_178014.4

p.S278G

c.832A>G

2 papers

NM_178014.4

p.F265L

c.795C>A

2 papers

NM_178014.4

p.F265L

c.795C>G

2 papers

NM_178014.4

p.F265L

c.793T>C