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

2 papers

NM_178012.5

p.G402V

c.1205G>T

Surrounding Variants

2 papers

NM_178012.5

p.G402D

c.1205G>A

1 paper

NM_178012.5

p.G402R

c.1204G>C

5 papers

NM_178012.5

p.E401K

c.1201G>A

1 paper

NM_178012.5

p.E405K

c.1213G>A

2 papers

NM_178012.5

p.W397R

c.1189T>C

2 papers

NM_178012.5

p.W397R

c.1189T>A

1 paper

NM_178012.5

p.H396Y

c.1186C>T

1 paper

NM_178012.5

p.L395P

c.1184T>C

1 paper

NM_178012.5

p.T409I

c.1226C>T

7 papers

NM_178012.5

p.E410K

c.1228G>A

2 papers

NM_178012.5

p.R391L

c.1172G>T

3 papers

NM_178012.5

p.R391H

c.1172G>A