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.A387V

c.1160C>T

Surrounding Variants

3 papers

NM_178012.5

p.M388V

c.1162A>G

1 paper

NM_178012.5

p.M388T

c.1163T>C

2 papers

NM_178012.5

p.R390W

c.1168C>T

4 papers

NM_178012.5

p.R390Q

c.1169G>A

2 papers

NM_178012.5

p.R391C

c.1171C>T

2 papers

NM_178012.5

p.R391L

c.1172G>T

3 papers

NM_178012.5

p.R391H

c.1172G>A

5 papers

NM_178012.5

p.R380L

c.1139G>T

3 papers

NM_178012.5

p.R380P

c.1139G>C

1 paper

NM_178012.5

p.R380H

c.1139G>A

7 papers

NM_178012.5

p.R380C

c.1138C>T

5 papers

NM_178012.5

p.R380S

c.1138C>A