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.G17S

c.49G>A

Surrounding Variants

1 paper

NM_178014.4

p.Q15H

c.45G>C

8 papers

NM_178014.4

p.Q15K

c.43C>A

2 papers

NM_178014.4

p.G13D

c.38G>A

1 paper

NM_178014.4

p.G13A

c.38G>C

2 papers

NM_178014.4

p.C12Y

c.35G>A

2 papers

NM_178014.4

p.C12delFs

c.35delG

3 papers

NM_178014.4

p.C12fs

c.34_35fs

1 paper

NM_178014.4

p.G10delFs

c.28delG

1 paper

NM_178014.4

p.I7F

c.19A>T

1 paper

NM_178014.4

p.V5M

c.13G>A

3 papers

NM_178014.4

p.I4L

c.10A>C

1 paper

NM_178014.4

p.I4delins

c.10_12delinsCTT