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.P220S

c.658C>T

Surrounding Variants

1 paper

NM_178012.5

p.T219A

c.655A>G

1 paper

NM_178012.5

p.T218A

c.652A>G

2 papers

NM_178012.5

p.Y222F

c.665A>T

1 paper

NM_178012.5

p.L217R

c.650T>G

1 paper

NM_178012.5

p.G223W

c.667G>T

1 paper

NM_178012.5

p.G223E

c.668G>A

1 paper

NM_178012.5

p.D224Y

c.670G>T

1 paper

NM_178012.5

p.L215R

c.644T>G

1 paper

NM_178012.5

p.L215L

c.643C>T

1 paper

NM_178012.5

p.L228R

c.683T>G

14 papers

NM_178012.5

p.L228P

c.683T>C

1 paper

NM_178012.5

p.V229A

c.686T>C