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.C354R

c.1060T>C

Surrounding Variants

3 papers

NM_178014.4

p.C354Y

c.1061G>A

14 papers

NM_178014.4

p.V353I

c.1057G>A

1 paper

NM_178014.4

p.D355V

c.1064A>T

1 paper

NM_178014.4

p.A352A

c.1056C>G

2 papers

NM_178014.4

p.A352T

c.1054G>A

1 paper

NM_178014.4

p.I356N

c.1067T>A

1 paper

NM_178014.4

p.I356T

c.1067T>C

2 papers

NM_178014.4

p.P357L

c.1070C>T

3 papers

NM_178014.4

p.K350N

c.1050G>C

3 papers

NM_178014.4

p.K350N

c.1050G>T

2 papers

NM_178014.4

p.P358L

c.1073C>T

2 papers

NM_178014.4

p.V349I

c.1045G>A