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.F85L

c.255T>G

Surrounding Variants

1 paper

NM_178014.4

p.F85L

c.255T>A

1 paper

NM_178014.4

p.F85L

c.253T>C

1 paper

NM_178014.4

p.P87Q

c.260C>A

2 papers

NM_178014.4

p.Q83L

c.248A>T

1 paper

NM_178014.4

p.N89T

c.266A>C

1 paper

NM_178014.4

p.G82R

c.244G>C

2 papers

NM_178014.4

p.N89K

c.267C>A

2 papers

NM_178014.4

p.N89K

c.267C>G

1 paper

NM_178014.4

p.G79delFs

c.237delT

1 paper

NM_001293212.2

p.F112V

c.334T>G

1 paper

NM_178014.4

p.V76D

c.227T>A

1 paper

NM_178014.4

p.D74A

c.221A>C