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.K58R

c.173A>G

Surrounding Variants

2 papers

NM_178014.4

p.V60F

c.178G>T

1 paper

NM_178014.4

p.V60A

c.179T>C

2 papers

NM_178014.4

p.R62H

c.185G>A

1 paper

NM_178014.4

p.D67G

c.200A>G

3 papers

NM_178014.4

p.P70L

c.209C>T

1 paper

NM_178014.4

p.G71R

c.211G>A

1 paper

NM_178014.4

p.G71R

c.211G>C

1 paper

NM_178014.4

p.T72N

c.215C>A

2 papers

NM_178014.4

p.M73V

c.217A>G

1 paper

NM_178014.4

p.M73K

c.218T>A

6 papers

NM_178014.4

p.M73T

c.218T>C

1 paper

NM_178014.4

p.D74A

c.221A>C