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.S188S

c.564G>T

Surrounding Variants

1 paper

NM_178012.5

p.V189I

c.565G>A

1 paper

NM_178012.5

p.L187_H190Fs

c.560_568delinsTGGTTACCATCATCFs

1 paper

NM_178012.5

p.H190Y

c.568C>T

3 papers

NM_178012.5

p.A185T

c.553G>A

1 paper

NM_178012.5

p.E194K

c.580G>A

1 paper

NM_178012.5

p.V180M

c.538G>A

4 papers

NM_178012.5

p.T178M

c.533C>T

1 paper

NM_178012.5

p.T178A

c.532A>G

1 paper

NM_178012.5

p.Y200H

c.598T>C

3 papers

NM_178012.5

p.D177V

c.530A>T

3 papers

NM_178012.5

p.C201S

c.601T>A

1 paper

NM_178012.5

p.S176*

c.527C>G