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

1–12 of 292 variants

21 papers

NM_178012.5

p.E421K

c.1261G>A

18 papers

NM_178012.5

p.S172P

c.514T>C

16 papers

NM_178012.5

p.A248V

c.743C>T

16 papers

NM_178012.5

p.F265L

c.793T>C

15 papers

NM_178012.5

p.F265L

c.795C>G

15 papers

NM_178012.5

p.F265L

c.795C>A

14 papers

NM_178012.5

p.L228P

c.683T>C

9 papers

NM_178012.5

p.G140A

c.419G>C

9 papers

NM_178012.5

p.T312M

c.935C>T

9 papers

NM_178012.5

p.D417N

c.1249G>A

8 papers

NM_178012.5

p.G98R

c.292G>C

8 papers

NM_178012.5

p.G98R

c.292G>A