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.C201F

c.602G>T

Surrounding Variants

1 paper

NM_178014.4

p.C201S

c.602G>C

1 paper

NM_178014.4

p.C201S

c.601T>A

1 paper

NM_178014.4

p.C201insFs

c.602dupG

1 paper

NM_178014.4

p.I202T

c.605T>C

1 paper

NM_178014.4

p.Y200H

c.598T>C

1 paper

NM_178014.4

p.E198D

c.594G>C

1 paper

NM_178014.4

p.E198D

c.594G>T

3 papers

NM_178014.4

p.E198A

c.593A>C

1 paper

NM_178014.4

p.E198G

c.593A>G

1 paper

NM_178014.4

p.E198*

c.592G>T

4 papers

NM_178014.4

p.E205K

c.613G>A

2 papers

NM_178014.4

p.D197N

c.589G>A