Varaico: Literature-Extracted Genetic Variants

TUBB2B

217 papers

RefSeq Summary

The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a ca...

Pfam Domains

Tubulinaa 3–212UCSCTubulin/FtsZ family, GTPase domain

Tubulin_Caa 261–383UCSCTubulin C-terminal domain

Gene Aliases

HGNC Name

tubulin beta 2B class IIb

HGNC Alias Symbols

MGC8685; DKFZp566F223; bA506K6.1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_178012.5

p.T143M

c.428C>T

Surrounding Variants

1 paper

NM_178012.5

p.S145F

c.434C>T

1 paper

NM_178012.5

p.G141R

c.421G>C

9 papers

NM_178012.5

p.G140A

c.419G>C

1 paper

NM_178012.5

p.G146E

c.437G>A

1 paper

NM_178012.5

p.M147R

c.440T>G

2 papers

NM_178012.5

p.T149I

c.446C>T

1 paper

NM_178012.5

p.I152S

c.455T>G

1 paper

NM_178012.5

p.I152N

c.455T>A

1 paper

NM_178012.5

p.S126N

c.377G>A

1 paper

NM_178012.5

p.E125insFs

c.373dupG

1 paper

NM_178012.5

p.R162R

c.486C>T

1 paper

NM_178012.5

p.K122*

c.364A>T