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.N247K

c.741T>A

Surrounding Variants

1 paper

NM_178014.4

p.N247K

c.741T>G

2 papers

NM_178014.4

p.N247S

c.740A>G

2 papers

NM_178014.4

p.A248T

c.742G>A

1 paper

NM_178014.4

p.A248D

c.743C>A

7 papers

NM_178014.4

p.A248V

c.743C>T

7 papers

NM_178014.4

p.D249N

c.745G>A

1 paper

NM_178014.4

p.D249H

c.745G>C

1 paper

NM_178014.4

p.D249G

c.746A>G

1 paper

NM_178014.4

p.D249V

c.746A>T

1 paper

NM_178014.4

p.D249delins

c.746_747delinsTA

1 paper

NM_178014.4

p.L246V

c.736C>G

1 paper

NM_178014.4

p.D249E

c.747C>A