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

2 papers

NM_178014.4

p.S230L

c.689C>T

Surrounding Variants

2 papers

NM_178014.4

p.A231T

c.691G>A

1 paper

NM_178014.4

p.A231D

c.692C>A

3 papers

NM_178014.4

p.V229A

c.686T>C

1 paper

NM_178014.4

p.L228H

c.683T>A

2 papers

NM_178014.4

p.L228P

c.683T>C

1 paper

NM_178014.4

p.L228V

c.682C>G

3 papers

NM_178014.4

p.L228F

c.682C>T

1 paper

NM_178014.4

p.M233I

c.699G>A

1 paper

NM_178014.4

p.M233I

c.699G>C

1 paper

NM_178014.4

p.M233I

c.699G>T

1 paper

NM_178014.4

p.S234G

c.700A>G

1 paper

NM_178014.4

p.S234N

c.701G>A