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.A283P

c.847G>C

Surrounding Variants

3 papers

NM_178014.4

p.R282Q

c.845G>A

3 papers

NM_178014.4

p.R282P

c.845G>C

2 papers

NM_178014.4

p.T285P

c.853A>C

1 paper

NM_178014.4

p.P287R

c.860C>G

11 papers

NM_178014.4

p.P287L

c.860C>T

NM_001293212.2

p.P307L

c.920C>T

1 paper

NM_178014.4

p.S278G

c.832A>G

3 papers

NM_178014.4

p.E288K

c.862G>A

3 papers

NM_178014.4

p.E288G

c.863A>G

2 papers

NM_001293212.2

p.L309V

c.925C>G

NM_178014.4

p.L289V

c.865C>G

4 papers

NM_178014.4

p.T290I

c.869C>T

1 paper

NM_178014.4

p.Q291K

c.871C>A

2 papers

NM_178014.4

p.Q291P

c.872A>C