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

8 papers

NM_178014.4

p.R2K

c.5G>A

Surrounding Variants

3 papers

NM_178014.4

p.R2M

c.5G>T

2 papers

NM_178014.4

p.R2G

c.4A>G

2 papers

NM_178014.4

p.R2W

c.4A>T

1 paper

NM_178014.4

p.R2S

c.6G>C

1 paper

NM_178014.4

p.R2S

c.6G>T

1 paper

NM_178014.4

p.M1T

c.2T>C

1 paper

NM_178014.4

p.M1V

c.1A>G

3 papers

NM_178014.4

p.I4L

c.10A>C

1 paper

NM_178014.4

p.I4delins

c.10_12delinsCTT

1 paper

NM_178014.4

p.V5M

c.13G>A

1 paper

NM_178014.4

p.I7F

c.19A>T

1 paper

NM_178014.4

p.G10delFs

c.28delG