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.W344R

c.1030T>A

Surrounding Variants

1 paper

NM_178014.4

p.W344R

c.1030T>C

2 papers

NM_178014.4

p.I345F

c.1033A>T

1 paper

NM_178014.4

p.P346T

c.1036C>A

1 paper

NM_178014.4

p.Y340S

c.1019A>C

2 papers

NM_178014.4

p.N348S

c.1043A>G

1 paper

NM_178014.4

p.S339R

c.1017C>A

1 paper

NM_178014.4

p.S339R

c.1017C>G

1 paper

NM_178014.4

p.S339R

c.1015A>C

2 papers

NM_178014.4

p.V349I

c.1045G>A

1 paper

NM_178014.4

p.S338T

c.1013G>C

3 papers

NM_178014.4

p.K350N

c.1050G>C

3 papers

NM_178014.4

p.K350N

c.1050G>T