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

8 papers

NM_178012.5

p.G98R

c.292G>A

Surrounding Variants

8 papers

NM_178012.5

p.G98R

c.292G>C

1 paper

NM_178012.5

p.G98A

c.293G>C

1 paper

NM_178012.5

p.G98E

c.293G>A

2 papers

NM_178012.5

p.G96R

c.286G>C

2 papers

NM_178012.5

p.G96R

c.286G>A

2 papers

NM_178012.5

p.N100Y

c.298A>T

1 paper

NM_178012.5

p.W101*

c.302G>A

1 paper

NM_178012.5

p.H105_Y106delFs

c.313_317del5

1 paper

NM_178012.5

p.G109E

c.326G>A

1 paper

NM_178012.5

p.V113I

c.337G>A

8 papers

NM_178012.5

p.L117P

c.350T>C

1 paper

NM_178012.5

p.D118H

c.352G>C