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.D31N

c.91G>A

Surrounding Variants

1 paper

NM_178014.4

p.D31insFs

c.91_92ins4

1 paper

NM_178014.4

p.H28_Y36delFs

c.84_108del25

1 paper

NM_178014.4

p.H28Y

c.82C>T

1 paper

NM_178014.4

p.H28del1

c.82_83delCAT

1 paper

NM_178014.4

p.E27Q

c.79G>C

2 papers

NM_178014.4

p.D26E

c.78T>A

2 papers

NM_178014.4

p.D26E

c.78T>G

1 paper

NM_178014.4

p.S25I

c.74G>T

2 papers

NM_178014.4

p.S25G

c.73A>G

1 paper

NM_178014.4

p.G38R

c.112G>A

1 paper

NM_178014.4

p.G38R

c.112G>C

1 paper

NM_178014.4

p.D39G

c.116A>G