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

16 papers

NM_178012.5

p.A248V

c.743C>T

Surrounding Variants

6 papers

NM_178012.5

p.A248T

c.742G>A

4 papers

NM_178012.5

p.D249H

c.745G>C

2 papers

NM_178012.5

p.D249N

c.745G>A

1 paper

NM_178012.5

p.N247K

c.741C>G

1 paper

NM_178012.5

p.N247K

c.741C>A

6 papers

NM_178012.5

p.N247S

c.740A>G

1 paper

NM_178012.5

p.D249G

c.746A>G

2 papers

NM_178012.5

p.D249E

c.747C>G

2 papers

NM_178012.5

p.D249E

c.747C>A

1 paper

NM_178012.5

p.R251S

c.751C>A

1 paper

NM_178012.5

p.R251L

c.752G>T

1 paper

NM_178012.5

p.R251H

c.752G>A