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

1–12 of 432 variants

19 papers

NM_178014.4

p.E401K

c.1201G>A

14 papers

NM_178014.4

p.V353I

c.1057G>A

12 papers

NM_178014.4

p.M299V

c.895A>G

10 papers

NM_178014.4

p.Y222F

c.665A>T

9 papers

NM_178014.4

p.Q43P

c.128A>C

9 papers

NM_178014.4

p.P287L

c.860C>T

8 papers

NM_178014.4

p.R2K

c.5G>A

8 papers

NM_178014.4

p.Q15K

c.43C>A

7 papers

NM_178014.4

p.N52S

c.155A>G

7 papers

NM_178014.4

p.A248V

c.743C>T

7 papers

NM_178014.4

p.D249N

c.745G>A

6 papers

NM_178014.4

p.M73T

c.218T>C