Varaico: Literature-Extracted Genetic Variants

TUBB

382 papers

RefSeq Summary

This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, wi...

Pfam Domains

Tubulinaa 1–140UCSCTubulin/FtsZ family, GTPase domain

Tubulinaa 3–212UCSCTubulin/FtsZ family, GTPase domain

Tubulin_Caa 189–311UCSCTubulin C-terminal domain

Gene Aliases

HGNC Name

tubulin beta class I

HGNC Alias Symbols

OK/SW-cl.56; MGC16435; M40; Tubb5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_178014.4

p.S382L

c.1145C>T

Surrounding Variants

1 paper

NM_178014.4

p.Q384_A387del0

c.1151_1159del9

1 paper

NM_178014.4

p.R380H

c.1139G>A

1 paper

NM_178014.4

p.R380P

c.1139G>C

2 papers

NM_178014.4

p.R380L

c.1139G>T

3 papers

NM_178014.4

p.R380S

c.1138C>A

2 papers

NM_178014.4

p.R380C

c.1138C>T

1 paper

NM_178014.4

p.A387V

c.1160C>T

1 paper

NM_178014.4

p.M388V

c.1162A>G

1 paper

NM_178014.4

p.E376G

c.1127A>G

4 papers

NM_178014.4

p.M388T

c.1163T>C

3 papers

NM_178014.4

p.M388I

c.1164G>A

4 papers

NM_178014.4

p.M388I

c.1164G>C