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.C239R

c.715T>C

Surrounding Variants

1 paper

NM_178012.5

p.C239S

c.715T>A

7 papers

NM_178012.5

p.C239F

c.716G>T

1 paper

NM_178012.5

p.C239S

c.716G>C

1 paper

NM_178012.5

p.C239W

c.717C>G

2 papers

NM_178012.5

p.L240L

c.718C>T

3 papers

NM_178012.5

p.T238A

c.712A>G

3 papers

NM_178012.5

p.R241H

c.722G>A

1 paper

NM_178012.5

p.G235W

c.703G>T

1 paper

NM_178012.5

p.G235R

c.703G>C

1 paper

NM_178012.5

p.G235R

c.703G>A

1 paper

NM_178012.5

p.P243S

c.727C>T

1 paper

NM_178012.5

p.P243L

c.728C>T